期刊
AUDIOLOGY AND NEURO-OTOLOGY
卷 9, 期 1, 页码 47-50出版社
KARGER
DOI: 10.1159/000074186
关键词
connexin 26; 439 G -> A mutation; sensorineural deafness
Mutations in the connexin 26 (Cx26) gene (GJB2) are a common cause of hereditary hearing impairment which affects approximately 1 in 2000 newborn children. We report the identification of a novel Cx26 point mutation (439 --> G. A) linked to familial, autosomal recessive, sensorineural hearing loss. This missense mutation (E147K) is located in the highly conserved, putative K+ channel lining sequence of the third transmembrane domain (TM3) of Cx26. Hearing impairment associated with this mutation was congenital, moderate to profound and showed no signs of progressive deterioration. Copyright (C) 2004 S. Karger AG, Basel.
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