Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31

Usher syndrome (USH) is the most common inherited deaf-blindness with the majority of USH causative genes also involved in nonsyndromic recessive deafness (DFNB). The mechanism underlying this disease variation of USH genes is unclear. Here, we addressed this issue by investigating the DFNB31 gene,...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Mathur, Pranav Dinesh, Zou, Junhuang, Zheng, Tihua, Almishaal, Ali, Wang, Yong, Chen, Qian, Wang, Le, Vashist, Deepti, Brown, Steve, Park, Albert, Yang, Jun
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4599678/
https://ncbi.nlm.nih.gov/pubmed/26307081
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv339
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