NOVEL MISSENSE MUTATION IN THE FIRST TRANSMEMBRANE SEGMENT OF THE CFTR GENE (Q98R) IDENTIFIED IN A MALE-ADULT

被引：7

作者：

ROMEY, MC

DESGEORGES, M

RAY, P

GODARD, P

DEMAILLE, J

CLAUSTRES, M

机构：

[1] INST BIOL,INSERM,U249,BIOCHIM GENET LAB,CNRS,UPR 9008,F-34060 MONTPELLIER,FRANCE

[2] INSERM,CLIN MALAD RESP & CJF,F-34000 MONTPELLIER,FRANCE

来源：

HUMAN MUTATION | 1995年 / 6卷 / 02期

关键词：

D O I：

10.1002/humu.1380060216

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：190 / 191

页数：2

共 7 条

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[2] 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].

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[5]

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[6] MOLECULAR MECHANISMS OF CFTR CHLORIDE CHANNEL DYSFUNCTION IN CYSTIC-FIBROSIS [J].

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[7] GENOMIC DNA-SEQUENCE OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE [J].

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