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Article

[Mutation analysis of pathogenic genes in a Henan family affected with congenital stationary night blindness].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2012

Wang Feng-yu, Wang Yan-li, Yang Yang, Li Cong-min, Zhang Tao, Chang Ming-xiu, Zhu Yun-liang

Abstract excerpt

OBJECTIVE: To detect genetic mutations associated with autosomal dominant congenital stationary night blindness (ADCSNB) in a family from Henan province. METHODS: Genomic DNA was extracted from peripheral blood samples of 14 family members. Based on 3 genes reported previously, PCR primers were designed and corresponding exons containing the mutation sites were amplified with PCR. PCR products were purified and...

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Source

Identifiers

PMID: 22487821
DOI: 10.3760/cma.j.issn.1003-9406.2012.02.006

Genes

RHO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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