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Article

[Screening of candidate genes in a family with autosomal dominant retinitis pigmentosa].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2003

Teng Yun, Tian Hong, Wang Hui, Hu Xiaofeng, Chen Yan, Yang Zhenrong, Wang Wei

Abstract excerpt

OBJECTIVE: To determine the causative mutation in a 5 generation pedigree with autosomal dominant retinitis pigmentosa (ADRP). METHODS: Genomic DNA from four patients and 4 normal persons in the same pedigree suffering ADRP were extracted, and subsequently eight exons of three ADRP candidate genes were screened for mutations by a combined polymerase chain reaction-single strand conformation polymorphism and DNA...

Topics

Adult
Base Sequence
DNA
DNA Mutational Analysis
Family Health
Female
Genes, Dominant
Genetic Predisposition to Disease
Genetic Testing
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Mutation, Missense

Polymorphism, Single-Stranded Conformational

Retinitis Pigmentosa

Rhodopsin

Source

Identifiers

PMID: 12673590

Provenance

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