A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy.

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Article

A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy.

Molecular vision - 1 Jan 2013

Zhao Xin, Ren Yanfan, Zhang Xiaohui, Chen Changxi, Dong Bing, Li Yang

Abstract excerpt

PURPOSE: To describe the clinical and genetic findings in a Chinese family with autosomal dominant cone dystrophy (adCOD). METHODS: One family was examined clinically, and genomic DNA was extracted from venous blood of all participants. Genotyping and haplotyping analysis was performed on the known genetic loci for adCOD and autosomal dominant cone-rod dystrophies (adCORD) with a panel of polymorphic markers in...

Topics

Adult
Amino Acid Sequence
Asian People
Base Sequence
China
Computational Biology
DNA Mutational Analysis
Electroretinography
Family
Female
Genes, Dominant
Genetic Predisposition to Disease
Guanylate Cyclase
Humans
Male

Source

Open in PubMed Open full text

Identifiers

PMID: 23734073
PMCID: PMC3668702

Genes

AIPL1
PITPNM3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Middle Aged

Molecular Sequence Data

Mutation