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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...

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Autores principales: Lin, J, Nishiguchi, K, Nakamura, M, Dryja, T, Berson, E, Miyake, Y
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 2005
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Acceso en línea: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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