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The Arg703Trp missense mutation in F13A1 is a de novo event
被引:5
作者
:
Anwar, Rashida
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Leeds, St Jamess Univ Hosp, Leeds Inst Mol Med, Leeds, W Yorkshire, England
Univ Leeds, St Jamess Univ Hosp, Leeds Inst Mol Med, Leeds, W Yorkshire, England
Anwar, Rashida
[
1
]
Langlois, Sylvie
论文数:
0
引用数:
0
h-index:
0
机构:
Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada
Univ Leeds, St Jamess Univ Hosp, Leeds Inst Mol Med, Leeds, W Yorkshire, England
Langlois, Sylvie
[
2
]
机构
:
[1]
Univ Leeds, St Jamess Univ Hosp, Leeds Inst Mol Med, Leeds, W Yorkshire, England
[2]
Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada
来源
:
BRITISH JOURNAL OF HAEMATOLOGY
|
2009年
/ 146卷
/ 01期
关键词
:
FXIII deficiency;
de novo mutation;
splicing mutation;
haplotype;
FACTOR-XIII;
D O I
:
10.1111/j.1365-2141.2009.07700.x
中图分类号
:
R5 [内科学];
学科分类号
:
1002 ;
100201 ;
摘要
:
引用
收藏
页码:118 / 120
页数:3
相关论文
共 7 条
[1]
Anwar R, 1998, THROMB HAEMOSTASIS, V79, P1151
[2]
Delayed umbilical bleeding - A presenting feature for factor XIII deficiency: Clinical features, genetics, and management
[J].
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Anwar, R
;
Minford, A
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Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, England
Minford, A
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Gallivan, L
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h-index:
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Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, England
Gallivan, L
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Trinh, CH
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Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, England
Markham, AF
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PEDIATRICS,
2002,
109
(02)
:E32
[3]
Factor XIII deficiency
[J].
Hsieh, L.
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Orange Cty, Div Hematol, Orange, CA 92868 USA
Childrens Hosp Orange Cty, Div Hematol, Orange, CA 92868 USA
Hsieh, L.
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Nugent, D.
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HAEMOPHILIA,
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14
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:1190
-1200
[4]
Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex
[J].
Jeffreys, AJ
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Univ Leicester, Dept Genet, Leicester LE1 7RH, Leics, England
Univ Leicester, Dept Genet, Leicester LE1 7RH, Leics, England
Jeffreys, AJ
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Kauppi, L
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Univ Leicester, Dept Genet, Leicester LE1 7RH, Leics, England
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NATURE GENETICS,
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(02)
:217
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Molecular analysis of sixteen unrelated factor XIIIA deficient families from south-east of Iran
[J].
Trinh, Chi H.
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Univ Leeds, Ashbury Ctr Struct Mol Biol, Leeds, W Yorkshire, England
Univ Leeds, Ashbury Ctr Struct Mol Biol, Leeds, W Yorkshire, England
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SNP microarray analysis for genome-wide detection of crossover regions
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[J].
YEE, VC
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
1994,
91
(15)
:7296
-7300
←
1
→
共 7 条
[1]
Anwar R, 1998, THROMB HAEMOSTASIS, V79, P1151
[2]
Delayed umbilical bleeding - A presenting feature for factor XIII deficiency: Clinical features, genetics, and management
[J].
论文数:
引用数:
h-index:
机构:
Anwar, R
;
Minford, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, England
Minford, A
;
Gallivan, L
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, England
Gallivan, L
;
论文数:
引用数:
h-index:
机构:
Trinh, CH
;
Markham, AF
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Leeds, St Jamess Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, England
Markham, AF
.
PEDIATRICS,
2002,
109
(02)
:E32
[3]
Factor XIII deficiency
[J].
Hsieh, L.
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Orange Cty, Div Hematol, Orange, CA 92868 USA
Childrens Hosp Orange Cty, Div Hematol, Orange, CA 92868 USA
Hsieh, L.
;
Nugent, D.
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Orange Cty, Div Hematol, Orange, CA 92868 USA
Childrens Hosp Orange Cty, Div Hematol, Orange, CA 92868 USA
Nugent, D.
.
HAEMOPHILIA,
2008,
14
(06)
:1190
-1200
[4]
Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex
[J].
Jeffreys, AJ
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Leicester, Dept Genet, Leicester LE1 7RH, Leics, England
Univ Leicester, Dept Genet, Leicester LE1 7RH, Leics, England
Jeffreys, AJ
;
Kauppi, L
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Leicester, Dept Genet, Leicester LE1 7RH, Leics, England
Univ Leicester, Dept Genet, Leicester LE1 7RH, Leics, England
Kauppi, L
;
Neumann, R
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Leicester, Dept Genet, Leicester LE1 7RH, Leics, England
Univ Leicester, Dept Genet, Leicester LE1 7RH, Leics, England
Neumann, R
.
NATURE GENETICS,
2001,
29
(02)
:217
-222
[5]
Molecular analysis of sixteen unrelated factor XIIIA deficient families from south-east of Iran
[J].
Trinh, Chi H.
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Leeds, Ashbury Ctr Struct Mol Biol, Leeds, W Yorkshire, England
Univ Leeds, Ashbury Ctr Struct Mol Biol, Leeds, W Yorkshire, England
Trinh, Chi H.
;
ElSayed, WalidSh
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, England
Univ Leeds, Ashbury Ctr Struct Mol Biol, Leeds, W Yorkshire, England
ElSayed, WalidSh
;
Eshghi, Peyman
论文数:
0
引用数:
0
h-index:
0
机构:
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Univ Leeds, Ashbury Ctr Struct Mol Biol, Leeds, W Yorkshire, England
Eshghi, Peyman
;
Miri-Moghaddam, Ebrahim
论文数:
0
引用数:
0
h-index:
0
机构:
Zahedan Univ Med Sci, Dept Immuno Haematol, Zahedan, Iran
Univ Leeds, Ashbury Ctr Struct Mol Biol, Leeds, W Yorkshire, England
Miri-Moghaddam, Ebrahim
;
Zadeh-Vakili, Azita
论文数:
0
引用数:
0
h-index:
0
机构:
Zahedan Univ Med Sci, Dept Genet, Zahedan, Iran
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Zadeh-Vakili, Azita
;
Markham, AlexanderF.
论文数:
0
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0
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0
机构:
Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, England
Univ Leeds, Ashbury Ctr Struct Mol Biol, Leeds, W Yorkshire, England
Markham, AlexanderF.
;
Anwar, Rashida
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Leeds, Leeds Inst Mol Med, Leeds LS2 9JT, W Yorkshire, England
Univ Leeds, Ashbury Ctr Struct Mol Biol, Leeds, W Yorkshire, England
Anwar, Rashida
.
BRITISH JOURNAL OF HAEMATOLOGY,
2008,
140
(05)
:581
-584
[6]
SNP microarray analysis for genome-wide detection of crossover regions
[J].
Wirtenberger, M
论文数:
0
引用数:
0
h-index:
0
机构:
German Canc Res Ctr, Div Mol Genet Epidemiol C050, D-69120 Heidelberg, Germany
Wirtenberger, M
;
Hemminki, K
论文数:
0
引用数:
0
h-index:
0
机构:
German Canc Res Ctr, Div Mol Genet Epidemiol C050, D-69120 Heidelberg, Germany
Hemminki, K
;
Chen, BW
论文数:
0
引用数:
0
h-index:
0
机构:
German Canc Res Ctr, Div Mol Genet Epidemiol C050, D-69120 Heidelberg, Germany
Chen, BW
;
Burwinkel, B
论文数:
0
引用数:
0
h-index:
0
机构:
German Canc Res Ctr, Div Mol Genet Epidemiol C050, D-69120 Heidelberg, Germany
Burwinkel, B
.
HUMAN GENETICS,
2005,
117
(04)
:389
-397
[7]
3-DIMENSIONAL STRUCTURE OF A TRANSGLUTAMINASE - HUMAN BLOOD-COAGULATION FACTOR-XIII
[J].
YEE, VC
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,DEPT BIOCHEM,SEATTLE,WA 98195
YEE, VC
;
PEDERSEN, LC
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,DEPT BIOCHEM,SEATTLE,WA 98195
PEDERSEN, LC
;
LETRONG, I
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,DEPT BIOCHEM,SEATTLE,WA 98195
LETRONG, I
;
BISHOP, PD
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,DEPT BIOCHEM,SEATTLE,WA 98195
BISHOP, PD
;
STENKAMP, RE
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,DEPT BIOCHEM,SEATTLE,WA 98195
STENKAMP, RE
;
TELLER, DC
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,DEPT BIOCHEM,SEATTLE,WA 98195
TELLER, DC
.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
1994,
91
(15)
:7296
-7300
←
1
→