Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients.
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Genetic, Biochemical and Clinical Insights into Primary Congenital GlaucomaDisease-causing mutations in proteins: structural analysis of the CYP1B1 mutations causing primary congenital glaucoma in humans.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families.CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucomaPrimary Congenital Glaucoma and the Involvement of CYP1B1.Clinical applications and implications of common and founder mutations in Indian subpopulations.Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.Key molecular pathways affected by glaucoma pathology: is predictive diagnosis possible?Update on congenital glaucoma.Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations.Surgical outcome of primary developmental glaucoma: a single surgeon's long-term experience from a tertiary eye care centre in India.Role of CYP1B1, p.E229K and p.R368H mutations among 120 families with sporadic juvenile onset open-angle glaucoma.Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes.
P2860
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P2860
Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients.
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2003 nî lūn-bûn
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2003年の論文
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name
Identification of R368H as a p ...... l glaucoma in Indian patients.
@en
Identification of R368H as a p ...... l glaucoma in Indian patients.
@nl
type
label
Identification of R368H as a p ...... l glaucoma in Indian patients.
@en
Identification of R368H as a p ...... l glaucoma in Indian patients.
@nl
prefLabel
Identification of R368H as a p ...... l glaucoma in Indian patients.
@en
Identification of R368H as a p ...... l glaucoma in Indian patients.
@nl
P2093
P356
P1476
Identification of R368H as a p ...... l glaucoma in Indian patients.
@en
P2093
Aramati B M Reddy
Dorairajan Balasubramanian
Seyed E Hasnain
Shirly G Panicker
P304
P356
10.1167/IOVS.02-0945
P407
P577
2003-10-01T00:00:00Z