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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Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: Jiang, Lichun, Liang, Xiaofang, Li, Yumei, Wang, Jing, Zaneveld, Jacques Eric, Wang, Hui, Xu, Shan, Wang, Keqing, Wang, Binbin, Chen, Rui, Sui, Ruifang
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2015
Matèries:
Research
Accés en línia: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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