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Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice

Usher syndrome type 2 (USH2) is the predominant form of USH, a leading genetic cause of combined deafness and blindness. PDZD7, a paralog of two USH causative genes, USH1C and USH2D (WHRN), was recently reported to be implicated in USH2 and non-syndromic deafness. It encodes a protein with multiple...

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Bibliografiske detaljer
Main Authors: Zou, Junhuang, Zheng, Tihua, Ren, Chongyu, Askew, Charles, Liu, Xiao-Ping, Pan, Bifeng, Holt, Jeffrey R., Wang, Yong, Yang, Jun
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2014
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3976334/
https://ncbi.nlm.nih.gov/pubmed/24334608
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt629
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