A NOVEL SPLICE-SITE MUTATION IN THE FIRST EXON OF THE CYSTIC-FIBROSIS TRANSMEMBRANE REGULATOR (CFTR) GENE IDENTIFIED IN A CBAVD PATIENT

被引：8

作者：

CULARD, JF

DESGEORGES, M

ROMEY, MC

MALZAC, P

DEMAILLE, J

CLAUSTRES, M

机构：

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

[2] FAC MED MARSEILLE,CERGM,INSERM,U242,F-13385 MARSEILLE,FRANCE

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 02期

关键词：

D O I：

10.1093/hmg/3.2.369

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：369 / 370

页数：2

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