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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Veröffentlicht in:	PLoS genetics 2015-07, Vol.11 (7), p.e1005386-e1005386
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Base Sequence Cell Line Chromosomes Codon, Nonsense - genetics Deafness - genetics Denmark Endolyn - genetics Family Female Genes Genetic counseling Genomes Hearing loss HEK293 Cells Humans Laboratories Male Mice Mice, Inbred C57BL Microsatellite Repeats - genetics Mutation Organ of Corti - metabolism Pedigree Polymorphism, Single Nucleotide - genetics Proteins Sequence Analysis, DNA Studies
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