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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Jiang, Lichun, Liang, Xiaofang, Li, Yumei, Wang, Jing, Zaneveld, Jacques Eric, Wang, Hui, Xu, Shan, Wang, Keqing, Wang, Binbin, Chen, Rui, Sui, Ruifang
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4559966/
https://ncbi.nlm.nih.gov/pubmed/26338283
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0329-3
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