Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family

PURPOSE: To identify the disease-causing gene in a four-generation Chinese family affected with retinitis pigmentosa (RP). METHODS: Linkage analysis was performed with a panel of microsatellite markers flanking the candidate genetic loci of RP. These loci included 38 known RP genes. The complete cod...

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Detalles Bibliográficos
Autores principales: Liu, Xiaowen, Tang, Zhaohui, Li, Chang, Yang, Kangjuan, Gan, Guanqi, Zhang, Zibo, Liu, Jingyu, Jiang, Fagang, Wang, Qing, Liu, Mugen
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2842093/
https://www.ncbi.nlm.nih.gov/pubmed/20309401

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2842093/
https://www.ncbi.nlm.nih.gov/pubmed/20309401

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