共 20 条
BMPR2 Gene Rearrangements Account for a Significant Proportion of Mutations in Familial and Idiopathic Pulmonary Arterial Hypertension
被引:152
作者:

Aldred, Micheala A.
论文数: 0 引用数: 0
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机构:
Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England
Univ Leicester, Dept Cardiovasc Sci, Div Med Genet, Leicester, Leics, England Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Vijayakrishnan, Jairam
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h-index: 0
机构:
Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England
Univ Leicester, Dept Cardiovasc Sci, Div Med Genet, Leicester, Leics, England Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

James, Victoria
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h-index: 0
机构:
Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England
Univ Leicester, Dept Cardiovasc Sci, Div Med Genet, Leicester, Leics, England Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Soubrier, Florent
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机构:
GHPitie Salpetriere, Lab Oncogenet & Angiogenet Mol, Dept Genet, Paris, France Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Gomez-Sanchez, Miguel A.
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机构:
Hosp Univ 12 Octubre, Serv Cardiol, Unidad Trasplante Cardiaco, Madrid, Spain Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Martensson, Gunnar
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机构:
Sahlgrens Univ Hosp, Div Heart & Lung Transplantat, Gothenburg, Sweden Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

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Manes, Alessandra
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机构:
Univ Bologna, Ist Cardiol, Bologna, Italy Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Corris, Paul
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h-index: 0
机构:
Freeman Rd Hosp, Dept Resp Med, Newcastle Upon Tyne NE7 7DN, Tyne & Wear, England Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Simonneau, Gerald
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机构:
Univ Paris 11, Hop Antoine Beclere, Serv Pneumol, Clamart, France Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Humbert, Marc
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Univ Paris 11, Hop Antoine Beclere, Serv Pneumol, Clamart, France Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Morrell, Nicholas W.
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h-index: 0
机构:
Univ Cambridge, Addenbrookes Hosp, Sch Clin Med, Div Resp Med,Dept Med, Cambridge CB2 2QQ, England
Univ Cambridge, Sch Clin Med, Dept Med, Div Resp Med,Papworth Hosp, Cambridge, England Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Trembath, Richard C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England
Univ Leicester, Dept Cardiovasc Sci, Div Med Genet, Leicester, Leics, England
Kings Coll London, Div Genet & Mol Med, London SE1 9RT, England Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England
机构:
[1] Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England
[2] Univ Leicester, Dept Cardiovasc Sci, Div Med Genet, Leicester, Leics, England
[3] GHPitie Salpetriere, Lab Oncogenet & Angiogenet Mol, Dept Genet, Paris, France
[4] Hosp Univ 12 Octubre, Serv Cardiol, Unidad Trasplante Cardiaco, Madrid, Spain
[5] Sahlgrens Univ Hosp, Div Heart & Lung Transplantat, Gothenburg, Sweden
[6] Univ Bologna, Ist Cardiol, Bologna, Italy
[7] Freeman Rd Hosp, Dept Resp Med, Newcastle Upon Tyne NE7 7DN, Tyne & Wear, England
[8] Univ Paris 11, Hop Antoine Beclere, Serv Pneumol, Clamart, France
[9] Univ Cambridge, Addenbrookes Hosp, Sch Clin Med, Div Resp Med,Dept Med, Cambridge CB2 2QQ, England
[10] Univ Cambridge, Sch Clin Med, Dept Med, Div Resp Med,Papworth Hosp, Cambridge, England
[11] Kings Coll London, Div Genet & Mol Med, London SE1 9RT, England
关键词:
BMPR2;
deletion;
MLPA;
pulmonary arterial hypertension;
D O I:
10.1002/humu.9398
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
Mutations of the BMPR2 gene predispose to pulmonary arterial hypertension (PAH), a serious, progressive disease of the pulmonary vascular system. However, despite the fact that most PAH families are consistent with linkage to the BMPR2 locus, sequencing only identifies mutations in some 55% of familial cases and between 10% and 40% of cases without a family history (idiopathic or IPAH). We therefore conducted a systematic analysis for larger gene rearrangements in panels of both familial and idiopathic PAH cases that were negative on sequencing of coding regions. Analysis of exon dosage across the entire gene using Multiplex Ligation-dependent Probe Amplification identified nine novel rearrangements and enabled full characterization at the exon level of previously reported deletions. Overall, BMPR2 rearrangements were identified in 7 of 58 families and 6 of 126 IPAH cases, suggesting that gross rearrangements underlie around 12% of all FPAH cases and 5% of IPAH. Importantly, two deletions encompassed all functional protein domains and are predicted to result in null mutations, providing the strongest support yet that the predominant molecular mechanism for disease predisposition is haploinsufficiency. Dosage analysis should now be considered an integral of part of the molecular work-up of PAH patients. (C) 2006 Wiley-Liss, Inc.
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页码:212 / 213
页数:9
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[11]
BMPR2 Mutations Found in Japanese Patients With Familial and Sporadic Primary Pulmonary Hypertension
[J].
Morisaki, Hiroko
;
Nakanishi, Norifumi
;
Kyotani, Shingo
;
Takashima, Atsushi
;
Tomoike, Hitonobu
;
Morisaki, Takayuki
.
HUMAN MUTATION,
2004, 23 (06)
:632-+

Morisaki, Hiroko
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Cardiovasc Ctr, Dept Biosci, Suita, Osaka 5658565, Japan Natl Cardiovasc Ctr, Dept Biosci, Suita, Osaka 5658565, Japan

Nakanishi, Norifumi
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Cardiovasc Ctr, Dept Internal Med, Suita, Osaka 5658565, Japan Natl Cardiovasc Ctr, Dept Biosci, Suita, Osaka 5658565, Japan

Kyotani, Shingo
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Cardiovasc Ctr, Dept Internal Med, Suita, Osaka 5658565, Japan Natl Cardiovasc Ctr, Dept Biosci, Suita, Osaka 5658565, Japan

Takashima, Atsushi
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Cardiovasc Ctr, Dept Biosci, Suita, Osaka 5658565, Japan Natl Cardiovasc Ctr, Dept Biosci, Suita, Osaka 5658565, Japan

Tomoike, Hitonobu
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Cardiovasc Ctr, Dept Internal Med, Suita, Osaka 5658565, Japan Natl Cardiovasc Ctr, Dept Biosci, Suita, Osaka 5658565, Japan

Morisaki, Takayuki
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Cardiovasc Ctr, Dept Biosci, Suita, Osaka 5658565, Japan
Osaka Univ, Grad Sch Pharmaceut Sci, Suita, Osaka, Japan Natl Cardiovasc Ctr, Dept Biosci, Suita, Osaka 5658565, Japan
[12]
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients
[J].
PetrijBosch, A
;
Peelen, T
;
vanVliet, M
;
vanEijk, R
;
Olmer, R
;
Drusedau, M
;
Hogervorst, FBL
;
Hageman, S
;
Arts, PJW
;
Ligtenberg, MJL
;
MeijersHeijboer, H
;
Klijn, JGM
;
Vasen, HFA
;
Cornelisse, CJ
;
vantVeer, LJ
;
Bakker, E
;
vanOmmen, GJB
;
Devilee, P
.
NATURE GENETICS,
1997, 17 (03)
:341-345

PetrijBosch, A
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,MED CTR,DEPT HUMAN GENET,NL-2300 RA LEIDEN,NETHERLANDS

Peelen, T
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,MED CTR,DEPT HUMAN GENET,NL-2300 RA LEIDEN,NETHERLANDS

vanVliet, M
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,MED CTR,DEPT HUMAN GENET,NL-2300 RA LEIDEN,NETHERLANDS

vanEijk, R
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,MED CTR,DEPT HUMAN GENET,NL-2300 RA LEIDEN,NETHERLANDS

Olmer, R
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,MED CTR,DEPT HUMAN GENET,NL-2300 RA LEIDEN,NETHERLANDS

Drusedau, M
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,MED CTR,DEPT HUMAN GENET,NL-2300 RA LEIDEN,NETHERLANDS

Hogervorst, FBL
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,MED CTR,DEPT HUMAN GENET,NL-2300 RA LEIDEN,NETHERLANDS

Hageman, S
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,MED CTR,DEPT HUMAN GENET,NL-2300 RA LEIDEN,NETHERLANDS

Arts, PJW
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,MED CTR,DEPT HUMAN GENET,NL-2300 RA LEIDEN,NETHERLANDS

Ligtenberg, MJL
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,MED CTR,DEPT HUMAN GENET,NL-2300 RA LEIDEN,NETHERLANDS

MeijersHeijboer, H
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,MED CTR,DEPT HUMAN GENET,NL-2300 RA LEIDEN,NETHERLANDS

Klijn, JGM
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,MED CTR,DEPT HUMAN GENET,NL-2300 RA LEIDEN,NETHERLANDS

Vasen, HFA
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,MED CTR,DEPT HUMAN GENET,NL-2300 RA LEIDEN,NETHERLANDS

Cornelisse, CJ
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,MED CTR,DEPT HUMAN GENET,NL-2300 RA LEIDEN,NETHERLANDS

vantVeer, LJ
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,MED CTR,DEPT HUMAN GENET,NL-2300 RA LEIDEN,NETHERLANDS

Bakker, E
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,MED CTR,DEPT HUMAN GENET,NL-2300 RA LEIDEN,NETHERLANDS

vanOmmen, GJB
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,MED CTR,DEPT HUMAN GENET,NL-2300 RA LEIDEN,NETHERLANDS

Devilee, P
论文数: 0 引用数: 0
h-index: 0
机构: LEIDEN UNIV,MED CTR,DEPT HUMAN GENET,NL-2300 RA LEIDEN,NETHERLANDS
[13]
Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1
[J].
Rasmussen, SA
;
Colman, SD
;
Ho, VT
;
Abernathy, CR
;
Arn, PH
;
Weiss, L
;
Schwartz, C
;
Saul, RA
;
Wallace, MR
.
JOURNAL OF MEDICAL GENETICS,
1998, 35 (06)
:468-471

Rasmussen, SA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Florida, Coll Med, Dept Pediat, Div Genet, Gainesville, FL 32610 USA

Colman, SD
论文数: 0 引用数: 0
h-index: 0
机构: Univ Florida, Coll Med, Dept Pediat, Div Genet, Gainesville, FL 32610 USA

Ho, VT
论文数: 0 引用数: 0
h-index: 0
机构: Univ Florida, Coll Med, Dept Pediat, Div Genet, Gainesville, FL 32610 USA

Abernathy, CR
论文数: 0 引用数: 0
h-index: 0
机构: Univ Florida, Coll Med, Dept Pediat, Div Genet, Gainesville, FL 32610 USA

Arn, PH
论文数: 0 引用数: 0
h-index: 0
机构: Univ Florida, Coll Med, Dept Pediat, Div Genet, Gainesville, FL 32610 USA

Weiss, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Florida, Coll Med, Dept Pediat, Div Genet, Gainesville, FL 32610 USA

Schwartz, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Florida, Coll Med, Dept Pediat, Div Genet, Gainesville, FL 32610 USA

Saul, RA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Florida, Coll Med, Dept Pediat, Div Genet, Gainesville, FL 32610 USA

Wallace, MR
论文数: 0 引用数: 0
h-index: 0
机构: Univ Florida, Coll Med, Dept Pediat, Div Genet, Gainesville, FL 32610 USA
[14]
Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II
[J].
Runo, JR
;
Vnencak-Jones, CL
;
Prince, M
;
Loyd, JE
;
Wheeler, L
;
Robbins, IM
;
Lane, KB
;
Newman, JH
;
Johnson, J
;
Nichols, WC
;
Phillips, JA
.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE,
2003, 167 (06)
:889-894

Runo, JR
论文数: 0 引用数: 0
h-index: 0
机构: Vanderbilt Univ, Med Ctr, Div Allergy Pulm & Crit Care Med, Dept Med, Nashville, TN 37232 USA

Vnencak-Jones, CL
论文数: 0 引用数: 0
h-index: 0
机构: Vanderbilt Univ, Med Ctr, Div Allergy Pulm & Crit Care Med, Dept Med, Nashville, TN 37232 USA

Prince, M
论文数: 0 引用数: 0
h-index: 0
机构: Vanderbilt Univ, Med Ctr, Div Allergy Pulm & Crit Care Med, Dept Med, Nashville, TN 37232 USA

Loyd, JE
论文数: 0 引用数: 0
h-index: 0
机构: Vanderbilt Univ, Med Ctr, Div Allergy Pulm & Crit Care Med, Dept Med, Nashville, TN 37232 USA

Wheeler, L
论文数: 0 引用数: 0
h-index: 0
机构: Vanderbilt Univ, Med Ctr, Div Allergy Pulm & Crit Care Med, Dept Med, Nashville, TN 37232 USA

Robbins, IM
论文数: 0 引用数: 0
h-index: 0
机构: Vanderbilt Univ, Med Ctr, Div Allergy Pulm & Crit Care Med, Dept Med, Nashville, TN 37232 USA

Lane, KB
论文数: 0 引用数: 0
h-index: 0
机构: Vanderbilt Univ, Med Ctr, Div Allergy Pulm & Crit Care Med, Dept Med, Nashville, TN 37232 USA

Newman, JH
论文数: 0 引用数: 0
h-index: 0
机构: Vanderbilt Univ, Med Ctr, Div Allergy Pulm & Crit Care Med, Dept Med, Nashville, TN 37232 USA

Johnson, J
论文数: 0 引用数: 0
h-index: 0
机构: Vanderbilt Univ, Med Ctr, Div Allergy Pulm & Crit Care Med, Dept Med, Nashville, TN 37232 USA

Nichols, WC
论文数: 0 引用数: 0
h-index: 0
机构: Vanderbilt Univ, Med Ctr, Div Allergy Pulm & Crit Care Med, Dept Med, Nashville, TN 37232 USA

Phillips, JA
论文数: 0 引用数: 0
h-index: 0
机构: Vanderbilt Univ, Med Ctr, Div Allergy Pulm & Crit Care Med, Dept Med, Nashville, TN 37232 USA
[15]
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
[J].
Schouten, JP
;
McElgunn, CJ
;
Waaijer, R
;
Zwijnenburg, D
;
Diepvens, F
;
Pals, G
.
NUCLEIC ACIDS RESEARCH,
2002, 30 (12)
:e57

Schouten, JP
论文数: 0 引用数: 0
h-index: 0
机构: MRC Holland, NL-1057 SN Amsterdam, Netherlands

McElgunn, CJ
论文数: 0 引用数: 0
h-index: 0
机构: MRC Holland, NL-1057 SN Amsterdam, Netherlands

Waaijer, R
论文数: 0 引用数: 0
h-index: 0
机构: MRC Holland, NL-1057 SN Amsterdam, Netherlands

Zwijnenburg, D
论文数: 0 引用数: 0
h-index: 0
机构: MRC Holland, NL-1057 SN Amsterdam, Netherlands

Diepvens, F
论文数: 0 引用数: 0
h-index: 0
机构: MRC Holland, NL-1057 SN Amsterdam, Netherlands

Pals, G
论文数: 0 引用数: 0
h-index: 0
机构: MRC Holland, NL-1057 SN Amsterdam, Netherlands
[16]
Clinical classification of pulmonary hypertension
[J].
Simonneau, G
;
Galiè, N
;
Rubin, LJ
;
Langleben, D
;
Seeger, W
;
Domenighetti, G
;
Gibbs, S
;
Lebrec, D
;
Speich, R
;
Beghetti, M
;
Rich, S
;
Fishman, A
.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY,
2004, 43 (12)
:5S-12S

Simonneau, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris Sud, Dept Pulm & Crit Med, Paris, France

Galiè, N
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris Sud, Dept Pulm & Crit Med, Paris, France

Rubin, LJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris Sud, Dept Pulm & Crit Med, Paris, France

Langleben, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris Sud, Dept Pulm & Crit Med, Paris, France

Seeger, W
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris Sud, Dept Pulm & Crit Med, Paris, France

Domenighetti, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris Sud, Dept Pulm & Crit Med, Paris, France

Gibbs, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris Sud, Dept Pulm & Crit Med, Paris, France

Lebrec, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris Sud, Dept Pulm & Crit Med, Paris, France

Speich, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris Sud, Dept Pulm & Crit Med, Paris, France

Beghetti, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris Sud, Dept Pulm & Crit Med, Paris, France

Rich, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris Sud, Dept Pulm & Crit Med, Paris, France

Fishman, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Paris Sud, Dept Pulm & Crit Med, Paris, France
[17]
Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer:: Identification of novel and recurrent deletions by MLPA
[J].
Taylor, CE
;
Charlton, RS
;
Burn, J
;
Sheridan, E
;
Taylor, GR
.
HUMAN MUTATION,
2003, 22 (06)
:428-433

Taylor, CE
论文数: 0 引用数: 0
h-index: 0
机构: St James Univ Hosp, Canc Res UK Mutat Detect Facil, Leeds, W Yorkshire, England

Charlton, RS
论文数: 0 引用数: 0
h-index: 0
机构: St James Univ Hosp, Canc Res UK Mutat Detect Facil, Leeds, W Yorkshire, England

Burn, J
论文数: 0 引用数: 0
h-index: 0
机构: St James Univ Hosp, Canc Res UK Mutat Detect Facil, Leeds, W Yorkshire, England

Sheridan, E
论文数: 0 引用数: 0
h-index: 0
机构: St James Univ Hosp, Canc Res UK Mutat Detect Facil, Leeds, W Yorkshire, England

Taylor, GR
论文数: 0 引用数: 0
h-index: 0
机构: St James Univ Hosp, Canc Res UK Mutat Detect Facil, Leeds, W Yorkshire, England
[18]
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β family
[J].
Thomson, JR
;
Machado, RD
;
Pauciulo, MW
;
Morgan, NV
;
Humbert, M
;
Elliott, GC
;
Ward, K
;
Yacoub, M
;
Mikhail, G
;
Rogers, P
;
Newman, J
;
Wheeler, L
;
Higenbottam, T
;
Gibbs, JSR
;
Egan, J
;
Crozier, A
;
Peacock, A
;
Allcock, R
;
Corris, P
;
Loyd, JE
;
Trembath, RC
;
Nichols, WC
.
JOURNAL OF MEDICAL GENETICS,
2000, 37 (10)
:741-745

Thomson, JR
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Machado, RD
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Pauciulo, MW
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Morgan, NV
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Humbert, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Elliott, GC
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Ward, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Yacoub, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Mikhail, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Rogers, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Newman, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Wheeler, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Higenbottam, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Gibbs, JSR
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Egan, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Crozier, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Peacock, A
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机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Allcock, R
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h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Corris, P
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h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Loyd, JE
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h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Trembath, RC
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h-index: 0
机构:
Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Nichols, WC
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机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England
[19]
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia
[J].
Trembath, RC
;
Thomson, JR
;
Machado, RD
;
Morgan, NV
;
Atkinson, C
;
Winship, I
;
Simonneau, G
;
Galie, N
;
Loyd, JE
;
Humbert, M
;
Nichols, WC
;
Morrell, NW
;
Berg, J
;
Manes, A
;
McGaughran, J
;
Pauciulo, M
;
Wheeler, L
.
NEW ENGLAND JOURNAL OF MEDICINE,
2001, 345 (05)
:325-334

Trembath, RC
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Thomson, JR
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Machado, RD
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Morgan, NV
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Atkinson, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Winship, I
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Simonneau, G
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h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

论文数: 引用数:
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Loyd, JE
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h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Humbert, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Nichols, WC
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Morrell, NW
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Berg, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Manes, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

McGaughran, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Pauciulo, M
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h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England

Wheeler, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Med, Div Med Genet, Leicester LE1 7RH, Leics, England
[20]
Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis
[J].
Yau, SC
;
Bobrow, M
;
Mathew, CG
;
Abbs, SJ
.
JOURNAL OF MEDICAL GENETICS,
1996, 33 (07)
:550-558

Yau, SC
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机构: Div. of Med. and Molecular Genetics, Guy's Tower, Guy's Hospital

Bobrow, M
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机构: Div. of Med. and Molecular Genetics, Guy's Tower, Guy's Hospital

Mathew, CG
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机构: Div. of Med. and Molecular Genetics, Guy's Tower, Guy's Hospital

Abbs, SJ
论文数: 0 引用数: 0
h-index: 0
机构: Div. of Med. and Molecular Genetics, Guy's Tower, Guy's Hospital