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 novel mutations causing familial primary congenital glaucoma in Indian pedigrees.

Investigative ophthalmology & visual science - 1 May 2002

Panicker Shirly G, Reddy Aramati B M, Mandal Anil K, Ahmed Niyaz, Nagarajaram Hampapathalu A, Hasnain Seyed E, Balasubramanian Dorairajan

Abstract excerpt

PURPOSE: To determine the possible molecular genetic defect underlying primary congenital glaucoma (PCG) in India and to identify the pathogenic mutations causing this childhood blindness. METHODS: Twenty-two members of five clinically well-characterized consanguineous families were studied. The primary candidate gene CYP1B1 was amplified from genomic DNA, sequenced, and analyzed in control subjects and patients...

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 Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytochrome P-450 CYP1B1

Share to Cytochrome P-450 Enzyme System

Share to Frameshift Mutation

Share to Glaucoma, Open-Angle

Share to Mutation, Missense

Source

Identifiers

PMID: 11980847

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees.PMID 11980847Read ↗

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

Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma.Semantic proximity Read ↗

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

Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma.Semantic proximity Read ↗

Novel compound heterozygous mutations in CYP1B1 identified in a Chinese family with developmental glaucoma.Semantic proximity Read ↗

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

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

Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil.Semantic proximity Read ↗

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

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

Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma.Semantic proximity Read ↗

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