Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients

BACKGROUND: Usher syndrome (USH) is the most common disease causing combined deafness and blindness. It is predominantly an autosomal recessive genetic disorder with occasionally digenic cases. Molecular diagnosis of USH patients is important for disease management. Few studies have tried to find th...

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Detalles Bibliográficos
Autores principales: Jiang, Lichun, Liang, Xiaofang, Li, Yumei, Wang, Jing, Zaneveld, Jacques Eric, Wang, Hui, Xu, Shan, Wang, Keqing, Wang, Binbin, Chen, Rui, Sui, Ruifang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4559966/
https://www.ncbi.nlm.nih.gov/pubmed/26338283
http://dx.doi.org/10.1186/s13023-015-0329-3

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