A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.
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Genetic, Biochemical and Clinical Insights into Primary Congenital GlaucomaGenotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and BrazilOverexpression of myocilin in the Drosophila eye activates the unfolded protein response: implications for glaucoma.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.Physiological significance and expression of P450s in the developing eye.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.CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.Investigation of the association between the GLC3A locus and normal tension glaucoma in Japanese patients by microsatellite analysis.Genetic isolates in ophthalmic diseases.Genotyping results of Iranian PCG families suggests one or more PCG locus other than GCL3A, GCL3B, and GCL3C existPrimary Congenital Glaucoma and the Involvement of CYP1B1.CYP1B1 gene mutations causing primary congenital glaucoma in Tunisia.Functional polymorphism of CYP2B6 G15631T is associated with hematologic and cytogenetic response in chronic myeloid leukemia patients treated with imatinib.CYP1B1 genotype influences the phenotype in primary congenital glaucoma and surgical treatment.Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes.CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients.Molecular analysis of Italian patients with congenital glaucoma.
P2860
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P2860
A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.
description
2002 nî lūn-bûn
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2002年の論文
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年學術文章
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name
A novel frameshift founder mut ...... ongenital glaucoma in Morocco.
@en
type
label
A novel frameshift founder mut ...... ongenital glaucoma in Morocco.
@en
prefLabel
A novel frameshift founder mut ...... ongenital glaucoma in Morocco.
@en
P2093
P2860
P1433
P1476
A novel frameshift founder mut ...... ongenital glaucoma in Morocco.
@en
P2093
A Belmouden
H-J Garchon
K Zaghloul
P2860
P304
P356
10.1034/J.1399-0004.2002.620415.X
P577
2002-10-01T00:00:00Z