Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: Novel variants and genotype-phenotype correlations

PURPOSE: This study aimed to investigate the role of CYP1B1 mutations in primary congenital glaucoma (PCG) in Pakistani patients. METHODS: After consent was received, 20 families with at least more than one member affected with primary congenital glaucoma were enrolled in the study. The disease was...

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Detalles Bibliográficos
Autores principales: Sheikh, Shakeel Ahmed, Waryah, Ali Muhammad, Narsani, Ashok Kumar, Shaikh, Hina, Gilal, Imtiaz Ahmed, Shah, Khairuddin, Qasim, Muhammad, Memon, Azam Iqbal, Kewalramani, Pitambar, Shaikh, Naila
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4087121/
https://www.ncbi.nlm.nih.gov/pubmed/25018621

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