Article
Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan.
Clinical genetics - 1 Dec 2007
Kitajiri S-I, McNamara R, Makishima T, Husnain T, Zafar A U, Kittles R A, Ahmed Z M, Friedman T B, Riazuddin S, Griffith A J
Abstract excerpt
Non-syndromic deafness is genetically heterogeneous. We previously reported that mutations of transmembrane channel-like gene 1 (TMC1) cause non-syndromic recessive deafness at the DFNB7/B11 locus on chromosome 9q13-q21 in nine Pakistani families. The goal of this study was to define the identities, origins and frequencies of TMC1 mutations in an expanded cohort of 557 large Pakistani families segregating...
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