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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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| 主要な著者: | , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Group
2006
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| 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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