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

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

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-b...

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Main Authors: Mette Nyegaard, Nanna D Rendtorff, Morten S Nielsen, Thomas J Corydon, Ditte Demontis, Anna Starnawska, Anne Hedemand, Annalisa Buniello, Francesco Niola, Michael T Overgaard, Suzanne M Leal, Wasim Ahmad, Friedrik P Wikman, Kirsten B Petersen, Dorthe G Crüger, Jaap Oostrik, Hannie Kremer, Niels Tommerup, Morten Frödin, Karen P Steel, Lisbeth Tranebjærg, Anders D Børglum
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-07-01
Series:PLoS Genetics
Online Access:https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1005386&type=printable
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