Article
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
Human mutation - 1 Jul 2007
Collin Rob W J, Kalay Ersan, Oostrik Jaap, Caylan Refik, Wollnik Bernd, Arslan Selçuk, den Hollander Anneke I, Birinci Yelda, Lichtner Peter, Strom Tim M, Toraman Bayram, Hoefsloot Lies H, Cremers Cor W R J, Brunner Han G, Cremers Frans P M, Karaguzel Ahmet, Kremer Hannie
Abstract excerpt
In a consanguineous Turkish family, a locus for autosomal recessive nonsyndromic hearing impairment (ARNSHI) was mapped to chromosome 2q31.1-2q33.1. Microsatellite marker analysis in the complete family determined the critical linkage interval that overlapped with DFNB27, for which the causative gene has not yet been identified, and DFNB59, a recently described auditory neuropathy caused by missense mutations in...
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