Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome

BACKGROUND: Usher syndrome (USH) is an autosomal recessive disorder characterized by hearing impairment and vision dysfunction due to retinitis pigmentosa. Phenotypic and genetic heterogeneities of this disease make it impractical to obtain a genetic diagnosis by conventional Sanger sequencing. METH...

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Detalles Bibliográficos
Autores principales: Shu, Hai-Rong, Bi, Huai, Pan, Yang-Chun, Xu, Hang-Yu, Song, Jian-Xin, Hu, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4571113/
https://www.ncbi.nlm.nih.gov/pubmed/26377068
http://dx.doi.org/10.1186/s12881-015-0223-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4571113/
https://www.ncbi.nlm.nih.gov/pubmed/26377068
http://dx.doi.org/10.1186/s12881-015-0223-9

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