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PMID:16505158

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Citation

Jalkanen, R, Mäntyjärvi, M, Tobias, R, Isosomppi, J, Sankila, EM, Alitalo, T and Bech-Hansen, NT (2006) X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. J. Med. Genet. 43:699-704

Abstract

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 phenotype.

Links

PubMed PMC2564595 Online version:10.1136/jmg.2006.040741

Keywords

Adult; Calcium Channels, L-Type/genetics; Case-Control Studies; Child; DNA Mutational Analysis; Exons/genetics; Female; Genetic Diseases, X-Linked/genetics; Humans; Male; Mutation/genetics; RNA, Messenger/genetics; RNA, Messenger/metabolism; Retinitis Pigmentosa/genetics

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:CAC1F

involved_in

GO:0007601: visual perception

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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