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,...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Hum Mol Genet
मुख्य लेखकों: Mathur, Pranav Dinesh, Zou, Junhuang, Zheng, Tihua, Almishaal, Ali, Wang, Yong, Chen, Qian, Wang, Le, Vashist, Deepti, Brown, Steve, Park, Albert, Yang, Jun
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Oxford University Press 2015
विषय:
Articles
ऑनलाइन पहुंच: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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