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Article

A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype.

Investigative ophthalmology & visual science - 1 Jul 2000

Silva E, Yang J M, Li Y, Dharmaraj S, Sundin O H, Maumenee I H

Abstract excerpt

PURPOSE: To identify and characterize new cone rod homeobox (CRX) mutations associated with the Leber congenital amaurosis phenotype. METHODS: The human CRX gene was sequenced in 74 consecutive patients carrying the diagnosis of Leber congenital amaurosis. RESULTS: Two mutations were identified in CRX that cause frameshifts and predict severe truncations of the encoded protein. One of these, a 1-bp insertion,...

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Source

Identifiers

PMID: 10892846

Genes

CRX

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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