囊性纤维化跨膜传导调节因子基因第20外显子中的一个新的错义突变（R1283M）。 - Suppr

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超能文献

A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.

作者信息

Cheadle J P, Meredith A L, al-Jader L N

机构信息

Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.

出版信息

Hum Mol Genet. 1992 May;1(2):123-5. doi: 10.1093/hmg/1.2.123.

DOI:10.1093/hmg/1.2.123

PMID:1284468

Abstract

摘要

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