Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma.
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Surgical interventions for primary congenital glaucomaCYP1B1-mediated Pathobiology of Primary Congenital GlaucomaRare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and ManagementGenetic, Biochemical and Clinical Insights into Primary Congenital GlaucomaGenotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and BrazilDisease-causing mutations in proteins: structural analysis of the CYP1B1 mutations causing primary congenital glaucoma in humans.In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma.Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia.LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).Cytochrome P450 1B1 and Primary Congenital GlaucomaGenotype and phenotype correlations in congenital glaucoma.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.Sex Bias in Primary Congenital Glaucoma Patients with and without CYP1B1 Mutations.Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patientsPrimary Congenital Glaucoma and the Involvement of CYP1B1.Key molecular pathways affected by glaucoma pathology: is predictive diagnosis possible?Role of CYP1B1, p.E229K and p.R368H mutations among 120 families with sporadic juvenile onset open-angle glaucoma.Abnormal Iris Processes May Be a Marker of Glaucoma Gene Carrier Status in Some Cases of Primary Infantile Glaucoma
P2860
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P2860
Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma.
description
2004 nî lūn-bûn
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2004年の論文
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name
Correlations of genotype with ...... h primary congenital glaucoma.
@en
Correlations of genotype with ...... h primary congenital glaucoma.
@nl
type
label
Correlations of genotype with ...... h primary congenital glaucoma.
@en
Correlations of genotype with ...... h primary congenital glaucoma.
@nl
prefLabel
Correlations of genotype with ...... h primary congenital glaucoma.
@en
Correlations of genotype with ...... h primary congenital glaucoma.
@nl
P2093
P356
P1476
Correlations of genotype with ...... h primary congenital glaucoma.
@en
P2093
Aramati B M Reddy
Seyed E Hasnain
Shirly G Panicker
Vijaya K Gothwal
P304
P356
10.1167/IOVS.03-0404
P407
P577
2004-04-01T00:00:00Z