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A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent

Glaucoma is the second leading cause of blindness, affecting ~65 million people worldwide. We identified and ascertained a large cohort of inbred families with multiple individuals manifesting cardinal symptoms of primary congenital glaucoma (PCG) to investigate the etiology of the disease at a mole...

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Detalles Bibliográficos
Autores principales:	Rauf, Bushra, Irum, Bushra, Kabir, Firoz, Firasat, Sabika, Naeem, Muhammad Asif, Khan, Shaheen N, Husnain, Tayyab, Riazuddin, Sheikh, Akram, Javed, Riazuddin, S Amer
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4972894/ https://www.ncbi.nlm.nih.gov/pubmed/27508083 http://dx.doi.org/10.1038/hgv.2016.21

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