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Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma

BACKGROUND: Primary congenital glaucoma (PCG) is a heterogeneous rare recessively inherited disorder prevalent in regions with high consanguinity. Disease phenotype is associated with increased intra ocular pressure and is a major cause of childhood blindness. Sequence variations in Cytochrome P450...

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Detalles Bibliográficos
Autores principales:	Tehreem, Raeesa, Arooj, Anam, Siddiqui, Sorath Noorani, Naz, Shagufta, Afshan, Kiran, Firasat, Sabika
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9462810/ https://www.ncbi.nlm.nih.gov/pubmed/36083974 http://dx.doi.org/10.1371/journal.pone.0274335

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