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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510537/
https://www.ncbi.nlm.nih.gov/pubmed/26197441
http://dx.doi.org/10.1371/journal.pgen.1005386

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510537/
https://www.ncbi.nlm.nih.gov/pubmed/26197441
http://dx.doi.org/10.1371/journal.pgen.1005386

Ejemplares similares