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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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Foilsithe in: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
Formáid: Artigo
Teanga:Inglês
Foilsithe: Oxford University Press 2015
Ábhair:
Rochtain Ar Líne: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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