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CYP4V2 mutation screening in an Iranian Bietti crystalline dystrophy pedigree and evidence for clustering of CYP4V2 mutations

PURPOSE: To report the genetic analysis of an Iranian Bietti crystalline dystrophy (BCD)-affected family, and to review previously reported mutations in the gene and assess the distribution of affected amino acids in the encoded protein. METHODS: The eleven exons of CYP4V2 were sequenced in the DNA...

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Detalhes bibliográficos
Publicado no:J Curr Ophthalmol
Main Authors: Darki, Faezeh, Fekri, Sahba, Farhangmehr, Shaghayegh, Ahmadieh, Hamid, Dehghan, Mohammad Hossein, Elahi, Elahe
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6611930/
https://ncbi.nlm.nih.gov/pubmed/31317096
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.joco.2019.01.007
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