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Article

A novel GJA8 mutation causing a recessive triangular cataract.

Molecular vision - 9 May 2008

Schmidt Werner, Klopp Norman, Illig Thomas, Graw Jochen

Abstract excerpt

PURPOSE: The aim of the study was to characterize the underlying mutation in a consanguineous family having cataracts. METHODS: Family D having congenital cataracts was treated at the University Eye Clinics at Giessen (Germany). Lens material from surgeries was collected, immediately frozen at -80 degrees C, and used for cDNA production. Blood was taken from the proband and available family members. Polymerase...

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Source

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Identifiers

PMID: 18483562
PMCID: PMC2375854

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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