Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss
作者： Anna Morgan , Daniel C. Koboldt , Elizabeth S. Barrie , Erin R. Crist , Gema García García
DOI: 10.1002/HUMU.23891
关键词:
摘要: … In summary, we report PLS1 as a novel gene for autosomal dominant NSHL, suggesting … report PLS1 as a novel gene for autosomal dominant HL and describe causative mutations in …
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