Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of glaucoma - 1 Aug 2001

Michels-Rautenstrauss K G, Mardin C Y, Zenker M, Jordan N, Gusek-Schneider G C, Rautenstrauss B W

Abstract excerpt

PURPOSE: To describe three patients with congenital glaucoma homozygous and compound heterozygous for different mutations and benign sequence variants in the cytochrome P 450 1B1 (CYP1B1) gene. METHODS: All patients were examined by slit-lamp biomicroscopy, gonioscopy, measurement of the cornea and optic disc, ultrasound biometry, and automated static threshold perimetry when possible. Direct sequence analysis...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aryl Hydrocarbon Hydroxylases
Share to Cytochrome P-450 CYP1B1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytochrome P-450 Enzyme System

Share to DNA Mutational Analysis

Share to Glaucoma

Share to Infant, Newborn

Share to Pedigree

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 11558822
DOI: 10.1097/00061198-200108000-00017

Genes

CGA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene.PMID 11558822Read ↗

Primary congenital glaucoma: a novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin.Semantic proximity Read ↗

Mutational analysis of CYP1B1 gene in Iranian pedigrees with glaucoma reveals known and novel mutations.Semantic proximity Read ↗

CYP1B1 gene analysis in primary congenital glaucoma Brazilian patients: novel mutations and association with poor prognosis.Semantic proximity Read ↗

Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.Semantic proximity Read ↗

Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital GlaucomaSemantic proximity Read ↗

Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.Semantic proximity Read ↗

Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes.Semantic proximity Read ↗

Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France.Semantic proximity Read ↗

CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.Semantic proximity Read ↗

Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.Semantic proximity Read ↗

Compound heterozygous mutations in CYP1B1 gene leads to severe primary congenital glaucoma phenotypeSemantic proximity Read ↗

Molecular genetics of primary congenital glaucoma in Brazil.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.