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Identification of two mutations of the RHO gene in two Chinese families with retinitis pigmentosa: Correlation between genotype and phenotype

PURPOSE: To describe the clinical and genetic findings in two Chinese families with retinitis pigmentosa (RP). METHODS: Two unrelated families were examined clinically. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Genotyping and haplotypin...

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Detalles Bibliográficos
Autores principales: Pan, Zhe, Lu, Tingting, Zhang, Xiaohui, Dai, Hanjun, Yan, Weiyu, Bai, Fengge, Li, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3534141/
https://www.ncbi.nlm.nih.gov/pubmed/23288993