Učitavanje...

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II

PURPOSE: Usher syndrome type II (USH2) is the most common form of Usher syndrome, an autosomal recessive disorder characterized by moderate to severe hearing loss, postpuberal onset of retinitis pigmentosa (RP), and normal vestibular function. Mutations in the USH2A gene have been shown to be respon...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: Dai, Hanjun, Zhang, Xiaohui, Zhao, Xin, Deng, Ting, Dong, Bing, Wang, Jingzhao, Li, Yang
Format: Artigo
Jezik:Inglês
Izdano: Molecular Vision 2008
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2584772/
https://ncbi.nlm.nih.gov/pubmed/19023448
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!