Homozygosity for a novel missense mutation (I175V) in exon 5 of the CFTR gene in a family of Armenian descent.

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作者信息

Romey M C, Desgeorges M, Malzac P, Sarles J, Demaille J, Claustres M

机构信息

Laboratoire de Biochimie Génétique, CNRS UPR-9008, INSERM U249, Institut de Biologie, Montpellier, France.

出版信息

Hum Mol Genet. 1994 Apr;3(4):661-2. doi: 10.1093/hmg/3.4.661.

DOI:10.1093/hmg/3.4.661

PMID:7520799

Abstract

摘要

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