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Article

The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation.

Molecular vision - 14 Sept 2009

Graw Jochen, Schmidt Werner, Minogue Peter J, Rodriguez Jessica, Tong Jun-Jie, Klopp Norman, Illig Thomas, Ebihara Lisa, Berthoud Viviana M, Beyer Eric C

Abstract excerpt

PURPOSE: The aim of this study was the genetic, cellular, and physiological characterization of a connexin50 (CX50) variant identified in a child with congenital cataracts. METHODS: Lens material from surgery was collected and used for cDNA production. Genomic DNA was prepared from blood obtained from the proband and her parents. PCR amplified DNA fragments were sequenced and characterized by restriction...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19756179
PMCID: PMC2743802

Genes

GJA8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation.PMID 19756179Read ↗

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