Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene

Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene

Item
http://www.wikidata.org/entity/Q28216331
Q28187405
sameAs
Genetic, Biochemical and Clinical Insights into Primary Congenital GlaucomaIdentification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.Common and rare genetic risk factors for glaucoma.CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.Genotype and phenotype correlations in congenital glaucoma.Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.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.Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patientsPrimary Congenital Glaucoma and the Involvement of CYP1B1.A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations.Progressive glomerulonephritis and histiocytic sarcoma associated with macrophage functional defects in CYP1B1-deficient mice.
P2860

Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene

Item
http://www.wikidata.org/entity/Q28216331
description
2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2001
@ast
scientific article (publication date: August 2001)
@en
vedecký článok (publikovaný 2001-08)
@sk
vědecký článek publikovaný v roce 2001
@cs
wetenschappelijk artikel (gepubliceerd in 2001-08)
@nl
наукова стаття, опублікована в серпні 2001
@uk
مقالة علمية (نشرت في أغسطس 2001)
@ar
name
Primary congenital glaucoma: t ...... ons in the GLC3A (CYP1B1) gene
@ast
Primary congenital glaucoma: t ...... ons in the GLC3A (CYP1B1) gene
@en
Primary congenital glaucoma: t ...... ons in the GLC3A (CYP1B1) gene
@nl
type
label
Primary congenital glaucoma: t ...... ons in the GLC3A (CYP1B1) gene
@ast
Primary congenital glaucoma: t ...... ons in the GLC3A (CYP1B1) gene
@en
Primary congenital glaucoma: t ...... ons in the GLC3A (CYP1B1) gene
@nl
prefLabel
Primary congenital glaucoma: t ...... ons in the GLC3A (CYP1B1) gene
@ast
Primary congenital glaucoma: t ...... ons in the GLC3A (CYP1B1) gene
@en
Primary congenital glaucoma: t ...... ons in the GLC3A (CYP1B1) gene
@nl
P1433
P1476
P2093
P304
P31
P3181
P356
P407
P433
P478
P577
P698
P921
P3181
P356
P1433
P1476
Primary congenital glaucoma: t ...... ons in the GLC3A (CYP1B1) gene
@en
P2093
P304
P31
P3181
P356
10.1097/00061198-200108000-00017
P407
P433
P478
P577
P698
P921