Article
[Preliminary mapping of an autosomal dominant retinitis pigmentosa gene by linkage analysis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2011
Ding Feng, Zhou Xin, Yuan Yuan, Yan Ming, Zheng Fang
Abstract excerpt
OBJECTIVE: To map the gene responsible for a three generations family with autosomal dominant retinitis pigmentosa (ADRP) and screen the mutation in candidate genes. METHODS: For a 14-member family with 7 suspected patients, systematic and ophthalmic examinations were performed including visual acuity, ophthalmoscopy, perimetry and electrophysiologic test. After the genomic DNA was extracted, genome scanning was...
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