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Null CYP1B1 Genotypes in Primary Congenital and Nondominant Juvenile Glaucoma

✍ Scribed by López-Garrido, María-Pilar; Medina-Trillo, Cristina; Morales-Fernandez, Laura; Garcia-Feijoo, Julián; Martínez-de-la-Casa, José-María; García-Antón, Maite; Escribano, Julio


Book ID
119967531
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
637 KB
Volume
120
Category
Article
ISSN
0161-6420

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The CYP1B1 gene (GenBank: U56438), a member of the cytochrome P450 gene family, has been shown to be mutated in patients with primary congenital glaucoma (PCG), a rare but severely blinding form of glaucoma. Here, we have investigated CYP1B1 mutations in 31 unrelated French PCG patients. Mutations w