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

Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.

Molecular medicine reports - 1 Apr 2012

Ko Jung Min, Yang Jung-Ah, Jeong Seon-Yong, Kim Hyon-Ju

Abstract excerpt

Oculocutaneous albinism (OCA) is a group of inherited disorders characterized by defective melanin biosynthesis. OCA1, the most common and severe form, is caused by mutations in the tyrosinase (TYR) gene. OCA4, caused by mutations in the SLC45A2 gene, has frequently been reported in the Japanese population. To determine the mutational spectrum in Korean OCA patients, 12 patients were recruited. The samples were...

Read the complete abstract on PubMed

Topics

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

Share to Albinism, Oculocutaneous
Share to Antigens, Neoplasm
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Infant

Share to Introns

Share to Membrane Transport Proteins

Share to Monophenol Monooxygenase

Source

Open in PubMed Open full text

Identifiers

PMID: 22294196
DOI: 10.3892/mmr.2012.764
PMCID: PMC3493039

Genes

TYR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.PMID 22294196Read ↗

Molecular analysis of Korean patients with oculocutaneous albinism.Semantic proximity Read ↗

Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.Semantic proximity Read ↗

A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.Semantic proximity Read ↗

Identification of TYR mutations in patients with oculocutaneous albinism.Semantic proximity Read ↗

TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations.Semantic proximity Read ↗

Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism.Semantic proximity Read ↗

Identification and characterization of the compound heterozygous variants of TYR gene in a northern Chinese family with Oculocutaneous albinism type 1.Semantic proximity Read ↗

Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.Semantic proximity Read ↗

A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.Semantic proximity Read ↗

DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.Semantic proximity Read ↗

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutationsSemantic proximity Read ↗

Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients.Semantic proximity Read ↗

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