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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Tanwar, Mukesh, Dada, Tanuj, Sihota, Ramanjit, Dada, Rima
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Molecular Vision 2009
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2802296/
https://ncbi.nlm.nih.gov/pubmed/20057908
Tagiau: Ychwanegu Tag
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