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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Dettagli Bibliografici
Pubblicato in:Orphanet J Rare Dis
Autori principali: Jiang, Lichun, Liang, Xiaofang, Li, Yumei, Wang, Jing, Zaneveld, Jacques Eric, Wang, Hui, Xu, Shan, Wang, Keqing, Wang, Binbin, Chen, Rui, Sui, Ruifang
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2015
Soggetti:
Research
Accesso online: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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