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SEVERE CYSTIC-FIBROSIS PHENOTYPE IN A DELTA-F508 3272-26A-]G COMPOUND HETEROZYGOTE
被引:5
作者
:
BIENVENU, T
论文数:
0
引用数:
0
h-index:
0
机构:
HOP COCHIN,SERV PNEUMOL,F-75014 PARIS,FRANCE
HOP COCHIN,SERV PNEUMOL,F-75014 PARIS,FRANCE
BIENVENU, T
[
1
]
BELDJORD, C
论文数:
0
引用数:
0
h-index:
0
机构:
HOP COCHIN,SERV PNEUMOL,F-75014 PARIS,FRANCE
HOP COCHIN,SERV PNEUMOL,F-75014 PARIS,FRANCE
BELDJORD, C
[
1
]
KAPLAN, JC
论文数:
0
引用数:
0
h-index:
0
机构:
HOP COCHIN,SERV PNEUMOL,F-75014 PARIS,FRANCE
HOP COCHIN,SERV PNEUMOL,F-75014 PARIS,FRANCE
KAPLAN, JC
[
1
]
HUBERT, D
论文数:
0
引用数:
0
h-index:
0
机构:
HOP COCHIN,SERV PNEUMOL,F-75014 PARIS,FRANCE
HOP COCHIN,SERV PNEUMOL,F-75014 PARIS,FRANCE
HUBERT, D
[
1
]
DUSSER, D
论文数:
0
引用数:
0
h-index:
0
机构:
HOP COCHIN,SERV PNEUMOL,F-75014 PARIS,FRANCE
HOP COCHIN,SERV PNEUMOL,F-75014 PARIS,FRANCE
DUSSER, D
[
1
]
机构
:
[1]
HOP COCHIN,SERV PNEUMOL,F-75014 PARIS,FRANCE
来源
:
JOURNAL OF MEDICAL GENETICS
|
1995年
/ 32卷
/ 11期
关键词
:
D O I
:
10.1136/jmg.32.11.919
中图分类号
:
Q3 [遗传学];
学科分类号
:
071007 ;
090102 ;
摘要
:
引用
收藏
页码:919 / 919
页数:1
相关论文
共 5 条
[1]
MUTATION HETEROGENEITY OF CYSTIC-FIBROSIS IN FRANCE - SCREENING BY DENATURING GRADIENT GEL-ELECTROPHORESIS USING PSORALEN-MODIFIED OLIGONUCLEOTIDE
[J].
BIENVENU, T
论文数:
0
引用数:
0
h-index:
0
机构:
Laboratoire de Biochimie Génétique, Hôpital Cochin, Paris
BIENVENU, T
;
CAZENEUVE, C
论文数:
0
引用数:
0
h-index:
0
机构:
Laboratoire de Biochimie Génétique, Hôpital Cochin, Paris
CAZENEUVE, C
;
KAPLAN, JC
论文数:
0
引用数:
0
h-index:
0
机构:
Laboratoire de Biochimie Génétique, Hôpital Cochin, Paris
KAPLAN, JC
;
BELDJORD, C
论文数:
0
引用数:
0
h-index:
0
机构:
Laboratoire de Biochimie Génétique, Hôpital Cochin, Paris
BELDJORD, C
.
HUMAN MUTATION,
1995,
6
(01)
:23
-29
[2]
SEVERE CYSTIC-FIBROSIS IN A CHILD HOMOZYGOUS FOR THE G542 NONSENSE MUTATION IN THE CFTR GENE
[J].
BIENVENU, T
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,SERV PEDIAT,F-75015 PARIS,FRANCE
HOP NECKER ENFANTS MALAD,SERV PEDIAT,F-75015 PARIS,FRANCE
BIENVENU, T
;
BELDJORD, C
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,SERV PEDIAT,F-75015 PARIS,FRANCE
HOP NECKER ENFANTS MALAD,SERV PEDIAT,F-75015 PARIS,FRANCE
BELDJORD, C
;
FONKNECHTEN, N
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,SERV PEDIAT,F-75015 PARIS,FRANCE
HOP NECKER ENFANTS MALAD,SERV PEDIAT,F-75015 PARIS,FRANCE
FONKNECHTEN, N
;
KAPLAN, JC
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,SERV PEDIAT,F-75015 PARIS,FRANCE
HOP NECKER ENFANTS MALAD,SERV PEDIAT,F-75015 PARIS,FRANCE
KAPLAN, JC
;
LENOIR, G
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,SERV PEDIAT,F-75015 PARIS,FRANCE
HOP NECKER ENFANTS MALAD,SERV PEDIAT,F-75015 PARIS,FRANCE
LENOIR, G
.
JOURNAL OF MEDICAL GENETICS,
1993,
30
(07)
:621
-622
[3]
ESTIVILL X, 1995, HUM GENET, V95, P331
[4]
MOLECULAR CHARACTERIZATION OF CYSTIC-FIBROSIS - 16 NOVEL MUTATIONS IDENTIFIED BY ANALYSIS OF THE WHOLE CYSTIC-FIBROSIS CONDUCTANCE TRANSMEMBRANE REGULATOR (CFTR) CODING REGIONS AND SPLICE SITE JUNCTIONS
[J].
FANEN, P
论文数:
0
引用数:
0
h-index:
0
机构:
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
FANEN, P
;
GHANEM, N
论文数:
0
引用数:
0
h-index:
0
机构:
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
GHANEM, N
;
VIDAUD, M
论文数:
0
引用数:
0
h-index:
0
机构:
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
VIDAUD, M
;
BESMOND, C
论文数:
0
引用数:
0
h-index:
0
机构:
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
BESMOND, C
;
MARTIN, J
论文数:
0
引用数:
0
h-index:
0
机构:
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
MARTIN, J
;
COSTES, B
论文数:
0
引用数:
0
h-index:
0
机构:
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
COSTES, B
;
PLASSA, F
论文数:
0
引用数:
0
h-index:
0
机构:
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
PLASSA, F
;
GOOSSENS, M
论文数:
0
引用数:
0
h-index:
0
机构:
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
GOOSSENS, M
.
GENOMICS,
1992,
13
(03)
:770
-776
[5]
MILD CYSTIC-FIBROSIS PHENOTYPE IN PATIENTS WITH THE 3272-26A-GREATER-THAN-G MUTATION
[J].
KANAVAKIS, E
论文数:
0
引用数:
0
h-index:
0
机构:
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
KANAVAKIS, E
;
TZETIS, M
论文数:
0
引用数:
0
h-index:
0
机构:
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
TZETIS, M
;
ANTONIADI, T
论文数:
0
引用数:
0
h-index:
0
机构:
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
ANTONIADI, T
;
TRAGERSYNODINOS, J
论文数:
0
引用数:
0
h-index:
0
机构:
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
TRAGERSYNODINOS, J
;
KATTAMIS, C
论文数:
0
引用数:
0
h-index:
0
机构:
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
KATTAMIS, C
;
DOUDOUNAKIS, S
论文数:
0
引用数:
0
h-index:
0
机构:
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
DOUDOUNAKIS, S
;
ADAM, G
论文数:
0
引用数:
0
h-index:
0
机构:
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
ADAM, G
.
JOURNAL OF MEDICAL GENETICS,
1995,
32
(05)
:406
-407
←
1
→
共 5 条
[1]
MUTATION HETEROGENEITY OF CYSTIC-FIBROSIS IN FRANCE - SCREENING BY DENATURING GRADIENT GEL-ELECTROPHORESIS USING PSORALEN-MODIFIED OLIGONUCLEOTIDE
[J].
BIENVENU, T
论文数:
0
引用数:
0
h-index:
0
机构:
Laboratoire de Biochimie Génétique, Hôpital Cochin, Paris
BIENVENU, T
;
CAZENEUVE, C
论文数:
0
引用数:
0
h-index:
0
机构:
Laboratoire de Biochimie Génétique, Hôpital Cochin, Paris
CAZENEUVE, C
;
KAPLAN, JC
论文数:
0
引用数:
0
h-index:
0
机构:
Laboratoire de Biochimie Génétique, Hôpital Cochin, Paris
KAPLAN, JC
;
BELDJORD, C
论文数:
0
引用数:
0
h-index:
0
机构:
Laboratoire de Biochimie Génétique, Hôpital Cochin, Paris
BELDJORD, C
.
HUMAN MUTATION,
1995,
6
(01)
:23
-29
[2]
SEVERE CYSTIC-FIBROSIS IN A CHILD HOMOZYGOUS FOR THE G542 NONSENSE MUTATION IN THE CFTR GENE
[J].
BIENVENU, T
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,SERV PEDIAT,F-75015 PARIS,FRANCE
HOP NECKER ENFANTS MALAD,SERV PEDIAT,F-75015 PARIS,FRANCE
BIENVENU, T
;
BELDJORD, C
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,SERV PEDIAT,F-75015 PARIS,FRANCE
HOP NECKER ENFANTS MALAD,SERV PEDIAT,F-75015 PARIS,FRANCE
BELDJORD, C
;
FONKNECHTEN, N
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,SERV PEDIAT,F-75015 PARIS,FRANCE
HOP NECKER ENFANTS MALAD,SERV PEDIAT,F-75015 PARIS,FRANCE
FONKNECHTEN, N
;
KAPLAN, JC
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,SERV PEDIAT,F-75015 PARIS,FRANCE
HOP NECKER ENFANTS MALAD,SERV PEDIAT,F-75015 PARIS,FRANCE
KAPLAN, JC
;
LENOIR, G
论文数:
0
引用数:
0
h-index:
0
机构:
HOP NECKER ENFANTS MALAD,SERV PEDIAT,F-75015 PARIS,FRANCE
HOP NECKER ENFANTS MALAD,SERV PEDIAT,F-75015 PARIS,FRANCE
LENOIR, G
.
JOURNAL OF MEDICAL GENETICS,
1993,
30
(07)
:621
-622
[3]
ESTIVILL X, 1995, HUM GENET, V95, P331
[4]
MOLECULAR CHARACTERIZATION OF CYSTIC-FIBROSIS - 16 NOVEL MUTATIONS IDENTIFIED BY ANALYSIS OF THE WHOLE CYSTIC-FIBROSIS CONDUCTANCE TRANSMEMBRANE REGULATOR (CFTR) CODING REGIONS AND SPLICE SITE JUNCTIONS
[J].
FANEN, P
论文数:
0
引用数:
0
h-index:
0
机构:
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
FANEN, P
;
GHANEM, N
论文数:
0
引用数:
0
h-index:
0
机构:
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
GHANEM, N
;
VIDAUD, M
论文数:
0
引用数:
0
h-index:
0
机构:
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
VIDAUD, M
;
BESMOND, C
论文数:
0
引用数:
0
h-index:
0
机构:
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
BESMOND, C
;
MARTIN, J
论文数:
0
引用数:
0
h-index:
0
机构:
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
MARTIN, J
;
COSTES, B
论文数:
0
引用数:
0
h-index:
0
机构:
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
COSTES, B
;
PLASSA, F
论文数:
0
引用数:
0
h-index:
0
机构:
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
PLASSA, F
;
GOOSSENS, M
论文数:
0
引用数:
0
h-index:
0
机构:
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
HOP HENRI MONDOR,INSERM,U91,GENET MOLEC LAB,F-94010 CRETEIL,FRANCE
GOOSSENS, M
.
GENOMICS,
1992,
13
(03)
:770
-776
[5]
MILD CYSTIC-FIBROSIS PHENOTYPE IN PATIENTS WITH THE 3272-26A-GREATER-THAN-G MUTATION
[J].
KANAVAKIS, E
论文数:
0
引用数:
0
h-index:
0
机构:
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
KANAVAKIS, E
;
TZETIS, M
论文数:
0
引用数:
0
h-index:
0
机构:
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
TZETIS, M
;
ANTONIADI, T
论文数:
0
引用数:
0
h-index:
0
机构:
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
ANTONIADI, T
;
TRAGERSYNODINOS, J
论文数:
0
引用数:
0
h-index:
0
机构:
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
TRAGERSYNODINOS, J
;
KATTAMIS, C
论文数:
0
引用数:
0
h-index:
0
机构:
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
KATTAMIS, C
;
DOUDOUNAKIS, S
论文数:
0
引用数:
0
h-index:
0
机构:
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
DOUDOUNAKIS, S
;
ADAM, G
论文数:
0
引用数:
0
h-index:
0
机构:
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
ST SOPHIAS CHILDRENS HOSP,CYST FIBROSIS CLIN,GR-11527 ATHENS,GREECE
ADAM, G
.
JOURNAL OF MEDICAL GENETICS,
1995,
32
(05)
:406
-407
←
1
→