Article
SNaPshot reveals high mutation and carrier frequencies of 15 common hearing loss mutants in a Chinese newborn cohort.
Clinical genetics - 1 May 2015
Chen Y, Cao Y, Li H-B, Mao J, Liu M-J, Liu Y-H, Wang B-J, Jiang D, Zhu Q, Ding Y, Wang W, Li H, Choy K W
Abstract excerpt
Genetic causes account for more than half of congenital hearing loss cases. The most frequent mutations found in non-syndromic hearing loss patients occur in GJB2 and SLC26A4. Mitochondrial genome mutations are also prevalent. However, the frequency of common hearing loss mutations in the Chinese population has not yet been well estimated. Here, we implemented the SNaPshot genotyping method to investigate the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.