Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients

PURPOSE: Primary congenital glaucoma (PCG) is an autosomal recessive eye disorder that is postulated to result from developmental defects in the anterior eye segment. Mutations in the cytochrome P4501B1 (CYP1B1) gene are a predominant cause of congenital glaucoma. In this study we identify CYP1B1 mu...

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Detalles Bibliográficos
Autores principales: Tanwar, Mukesh, Dada, Tanuj, Sihota, Ramanjit, Dada, Rima
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2802296/
https://www.ncbi.nlm.nih.gov/pubmed/20057908

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2802296/
https://www.ncbi.nlm.nih.gov/pubmed/20057908

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