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Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy
Background: Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessively inherited disorder characterised by tiny yellowish glittering retinal crystals, choroidal sclerosis, and crystals in the peripheral cornea, associated with progressive night blindness. CYP4V2, encoding a member...
में बचाया:
| मुख्य लेखकों: | , , , , , |
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| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
BMJ Group
2005
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1736086/ https://ncbi.nlm.nih.gov/pubmed/15937078 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.029066 |
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