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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Detalles Bibliográficos
Autores principales: Darki, Faezeh, Fekri, Sahba, Farhangmehr, Shaghayegh, Ahmadieh, Hamid, Dehghan, Mohammad Hossein, Elahi, Elahe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611930/
https://www.ncbi.nlm.nih.gov/pubmed/31317096
http://dx.doi.org/10.1016/j.joco.2019.01.007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611930/
https://www.ncbi.nlm.nih.gov/pubmed/31317096
http://dx.doi.org/10.1016/j.joco.2019.01.007

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