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Article

A complete screen for mutations of the rhodopsin gene in a panel of Chinese patients with autosomal dominant retinitis pigmentosa.

Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih - 1 Mar 2005

Zhang Xiao-li, Liu Ming, Meng Xiao-hong, Fu Wei-ling, Yin Zheng-qin, Zhang Xue, Huang Jun-fu

Abstract excerpt

OBJECTIVE: To evaluate the prevalence of rhodopsin (RHO) mutations and the genotype-phenotype relationships in Chinese patients with autosomal dominant retinitis pigmentosa (ADRP) by conformation sensitive gel electrophoresis (CSGE) and direct DNA sequencing. METHODS: We have screened the five coding exons and splice sites of RHO gene in 27 probands who had no relativity from Chinese ADRP families and 100 normal...

Topics

Asian People
Base Sequence
DNA Mutational Analysis
DNA, Antisense
Electrophoresis, Polyacrylamide Gel
Exons
Female
Genotype
Humans
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation, Missense

Phenotype

Retinitis Pigmentosa

Rhodopsin

Source

Identifiers

PMID: 15844309

Genes

RHO
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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