A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.

doi:10.1371/journal.pgen.1005386

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Article

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.

PLoS genetics - 1 Jul 2015

Nyegaard Mette, Rendtorff Nanna D, Nielsen Morten S, Corydon Thomas J, Demontis Ditte, Starnawska Anna, Hedemand Anne, Buniello Annalisa, Niola Francesco, Overgaard Michael T, Leal Suzanne M, Ahmad Wasim, Wikman Friedrik P, Petersen Kirsten B, Crüger Dorthe G, Oostrik Jaap, Kremer Hannie, Tommerup Niels, Frödin Morten, Steel Karen P, Tranebjærg Lisbeth, Børglum Anders D

Abstract excerpt

Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more genes to be identified. In this study we used SNP-based linkage analysis and follow up microsatellite markers to identify a novel locus (DFNA66) on chromosome 6q15-21...

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PMID: 26197441
DOI: 10.1371/journal.pgen.1005386
PMCID: PMC4510537

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