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Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population

PURPOSE: To identify myocilin (MYOC) and cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in a Spanish population with different clinical forms of familial glaucoma or ocular hypertension (OHT). METHODS: Index patients from 226 families participated in this study. Patients we...

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Detalles Bibliográficos
Autores principales: Millá, Elena, Mañé, Begoña, Duch, Susana, Hernan, Imma, Borràs, Emma, Planas, Ester, Dias, Miguel de Sousa, Carballo, Miguel, Gamundi, María José
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3733905/
https://www.ncbi.nlm.nih.gov/pubmed/23922489