OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)

BACKGROUND: Early-onset hearing loss is mostly of genetic origin. The complexity of the hearing process is reflected by its extensive genetic heterogeneity, with probably many causative genes remaining to be identified. Here, we aimed at identifying the genetic basis for autosomal dominant non-syndr...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Thoenes, Michaela, Zimmermann, Ulrike, Ebermann, Inga, Ptok, Martin, Lewis, Morag A, Thiele, Holger, Morlot, Susanne, Hess, Markus M, Gal, Andreas, Eisenberger, Tobias, Bergmann, Carsten, Nürnberg, Gudrun, Nürnberg, Peter, Steel, Karen P, Knipper, Marlies, Bolz, Hanno Jörn
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4334766/
https://ncbi.nlm.nih.gov/pubmed/25759012
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0238-5
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