在中国一个伴有听力损失和掌跖角化病的家系中发现一种新的GJB2（连接蛋白26）突变，R75W。 - Suppr

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超能文献

A de novo GJB2 (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma.

作者信息

Yuan Yongyi, Huang Deliang, Yu Fei, Zhu Xiuhui, Kang Dongyang, Yuan Huijun, Han Dongyi, Dai Pu

机构信息

Department of Otolaryngology, PLA General Hospital, Beijing, People's Republic of China.

出版信息

Am J Med Genet A. 2009 Feb 15;149A(4):689-92. doi: 10.1002/ajmg.a.32461.

DOI:10.1002/ajmg.a.32461

PMID:18924167

Abstract

摘要

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