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

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

Molecular vision - 30 Dec 2009

Tanwar Mukesh, Dada Tanuj, Sihota Ramanjit, Dada Rima

Abstract excerpt

PURPOSE: Primary congenital glaucoma (PCG) is an autosomal recessive eye disorder that is postulated to result from developmental defects in the anterior eye segment. Mutations in the cytochrome P4501B1 (CYP1B1) gene are a predominant cause of congenital glaucoma. In this study we identify CYP1B1 mutations in PCG patients. METHODS: Twenty-three unrelated PCG patients and 50 healthy controls were enrolled in the...

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 Codon

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytochrome P-450 CYP1B1

Share to DNA Mutational Analysis

Share to Glaucoma

Share to Infant

Share to Infant, Newborn

Source

Open in PubMed Open full text

Identifiers

PMID: 20057908
PMCID: PMC2802296

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.PMID 20057908Read ↗

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

Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations.Semantic proximity Read ↗

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

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

CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia.Semantic proximity Read ↗

Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.Semantic proximity Read ↗

A clinical and molecular genetic study of German patients with primary congenital glaucoma.Semantic proximity Read ↗

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

Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma.Semantic proximity Read ↗

Genetics in primary congenital glaucoma: Implications in disease management and counseling.Semantic proximity Read ↗

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