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,...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Hum Mol Genet
Κύριοι συγγραφείς: Mathur, Pranav Dinesh, Zou, Junhuang, Zheng, Tihua, Almishaal, Ali, Wang, Yong, Chen, Qian, Wang, Le, Vashist, Deepti, Brown, Steve, Park, Albert, Yang, Jun
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Oxford University Press 2015
Θέματα:
Articles
Διαθέσιμο Online: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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