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[Genetic analysis of a Chinese pedigree affected with Achromatopsia due to variants of CNGA3 gene and a literature review].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2024

Liu Yingwen, Zhang Yuxin, Yan Lulu, Xie Min, Li Haibo

Abstract excerpt

OBJECTIVE: To explore the molecular basis for a Chinese pedigree affected with Achromatopsia (ACHM). METHODS: A pedigree with ACHM which was admitted to the Women and Children's Hospital of Ningbo University on April 14, 2023 was selected as the study subject. Whole exome sequencing (WES) was carried out for the proband. Candidate variants were verified by Sanger sequencing and bioinformatic analysis. Related...

Topics

Adult
Child
Female
Humans
Male
China
Color Vision Defects
Cyclic Nucleotide-Gated Cation Channels
East Asian People
Exome Sequencing
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

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PMID: 39217486
DOI: 10.3760/cma.j.cn511374-20230911-00124

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