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CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability

PURPOSE: To analyze the contributions of cytochrome P4501B1 (CYP1B1) mutations to primary congenital glaucoma (PCG) in Spanish patients. METHODS: We analyzed, by polymerase chain reaction (PCR) DNA sequencing, the presence of promoter (−1 to −867) and exon CYP1B1 mutations in 38 unrelated Spanish pr...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Campos-Mollo, Ezequiel, López-Garrido, María-Pilar, Blanco-Marchite, Cristina, Garcia-Feijoo, Julián, Peralta, Jesús, Belmonte-Martínez, José, Ayuso, Carmen, Escribano, Julio
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Molecular Vision 2009
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2645906/
https://ncbi.nlm.nih.gov/pubmed/19234632
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!