Targeted Next-Generation Sequencing Reveals Novel USH2A Mutations Associated with Diverse Disease Phenotypes: Implications for Clinical and Molecular Diagnosis

USH2A mutations have been implicated in the disease etiology of several inherited diseases, including Usher syndrome type 2 (USH2), nonsyndromic retinitis pigmentosa (RP), and nonsyndromic deafness. The complex genetic and phenotypic spectrums relevant to USH2A defects make it difficult to manage pa...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Chen, Xue, Sheng, Xunlun, Liu, Xiaoxing, Li, Huiping, Liu, Yani, Rong, Weining, Ha, Shaoping, Liu, Wenzhou, Kang, Xiaoli, Zhao, Kanxing, Zhao, Chen
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2014
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4136877/
https://ncbi.nlm.nih.gov/pubmed/25133613
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0105439
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