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Molecular screening of the CYP4V2 gene in Bietti crystalline dystrophy that is associated with choroidal neovascularization

PURPOSE: Bietti crystalline dystrophy (BCD) is an autosomal recessive disease characterized by intraretinal deposits of multiple small crystals, with or without associated crystal deposits in the cornea. The disease is caused by mutation in the cytochrome p450, family 4, subfamily v, polypeptide 2 (...

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Autors principals: Mamatha, Gandra, Umashankar, Vetrivel, Kasinathan, Nachiappan, Krishnan, Tandava, Sathyabaarathi, Ravichandran, Karthiyayini, Thirumalai, Amali, John, Rao, Chetan, Madhavan, Jagadeesan
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2011
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3154135/
https://ncbi.nlm.nih.gov/pubmed/21850171
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