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Article

A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.

Investigative ophthalmology & visual science - 1 Oct 2000

Pras E, Frydman M, Levy-Nissenbaum E, Bakhan T, Raz J, Assia E I, Goldman B, Pras E

Abstract excerpt

PURPOSE: To identify the genetic defect causing autosomal recessive cataract in two inbred families. METHODS: Linkage analysis was performed with polymorphic markers close to 14 loci previously shown to be involved in autosomal dominant congenital cataract. In one of the families a gene segregating with the disease was analyzed by single-strand conformation polymorphism (SSCP) and eventually sequenced. RESULTS:...

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Source

Identifiers

PMID: 11006246

Genes

CRYAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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