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 a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma

1 Apr 1999

Abstract excerpt

Primary congenital glaucoma (PCG) is an autosomal recessive eye disease that occurs at an unusually high frequency in the ethnic isolate of Roms (Gypsies) in Slovakia. Recently, we linked the disease in this population to the GLC3A locus on 2p21. At this locus, mutations in the cytochrome P4501B1 (CYP1B1) gene have been identified as a molecular basis for this condition. Here, we report the results of CYP1B1...

Read the complete abstract on PubMed

Topics

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

Share to Glaucoma and retinal disorders
Share to Retinal Diseases and Treatments
Share to Thyroid Disorders and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 10227395
DOI: 10.1136/jmg.36.4.290

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucomaPMID 10227395Read ↗

Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.Semantic proximity Read ↗

Linkage of Autosomal Recessive Primary Congenital Glaucoma to the GLC3A Locus in Roms (Gypsies) from SlovakiaSemantic proximity Read ↗

[Homozygous E387K (1159G>A) mutation of the CYP1B1 gene in a Roma boy affected with primary congenital glaucoma. Case report].Semantic proximity Read ↗

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

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.Semantic proximity Read ↗

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

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

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

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

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

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

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