Article
Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness.
The Medical journal of Australia - 20 Aug 2001
Dahl H H, Saunders K, Kelly T M, Osborn A H, Wilcox S, Cone-Wesson B, Wunderlich J L, Du Sart D, Kamarinos M, Gardner R J, Dennehy S, Williamson R, Vallance N, Mutton P
Abstract excerpt
OBJECTIVE: To determine (1) the prevalence and nature of connexin 26 mutations in a cohort of Australian children with non-syndromic hearing loss, and (2) the carrier frequency of the common connexin 26 mutation (35delG) in the general population. DESIGN: A cohort, case-finding study. Mutation analysis was performed on DNA extracted from white blood cells, buccal cells, or Guthrie blood spots. SETTING: A hearing...
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