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Article

X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene

27 Feb 2006

Abstract excerpt

BACKGROUND: X linked cone-rod dystrophy (CORDX) is a recessive retinal disease characterised by progressive dysfunction of photoreceptors. It is genetically heterogeneous, showing linkage to three X chromosomal loci. CORDX1 is caused by mutations in the RPGR gene (Xp21.1), CORDX2 is located on Xq27.2-28, and we recently localised CORDX3 to Xp11.4-q13.1. We aimed to identify the causative gene behind the CORDX3...

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Identifiers

PMID: 16505158
DOI: 10.1136/jmg.2006.040741

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