Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

BACKGROUND: Deafness is a highly heterogenous disorder with over 100 genes known to underlie human non-syndromic hearing impairment. However, many more remain undiscovered, particularly those involved in the most common form of deafness: adult-onset progressive hearing loss. Despite several genome-w...

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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: Lewis, Morag A., Nolan, Lisa S., Cadge, Barbara A., Matthews, Lois J., Schulte, Bradley A., Dubno, Judy R., Steel, Karen P., Dawson, Sally J.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6123954/
https://ncbi.nlm.nih.gov/pubmed/30180840
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-018-0395-1
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