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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Enregistré dans:
Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: 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
Langue:Inglês
Publié: BioMed Central 2015
Sujets:
Research
Accès en ligne: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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