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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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Detalhes bibliográficos
Main Authors: Pan, Zhe, Lu, Tingting, Zhang, Xiaohui, Dai, Hanjun, Yan, Weiyu, Bai, Fengge, Li, Yang
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3534141/
https://ncbi.nlm.nih.gov/pubmed/23288993
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