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

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....

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書誌詳細
主要な著者: Jalkanen, R, Mäntyjärvi, M, Tobias, R, Isosomppi, J, Sankila, E‐M, Alitalo, T, Bech‐Hansen, N T
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Group 2006
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564595/
https://ncbi.nlm.nih.gov/pubmed/16505158
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.040741
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