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

Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene.

Journal of dermatological science - 1 Dec 2011

Yamada Makiko, Sakai Keisuke, Hayashi Masahiro, Hozumi Yutaka, Abe Yuko, Kawaguchi Masakazu, Ihn Hironobu, Suzuki Tamio

Abstract excerpt

BACKGROUND: Oculocutaneous albinism (OCA) type 3 caused by mutations of the TYRP1 gene is an autosomal recessive disorder of pigmentation characterized by reduced biosynthesis of melanin pigment in the skin, hair, and eye. The clinical phenotype has been reported as mild in Caucasian OCA3 patients. OBJECTIVE: We had the opportunity to examine a Japanese girl with OCA3 and investigated activity of TYRP1 protein...

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 Japan

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Melanins

Share to Melanocytes

Share to Membrane Glycoproteins

Share to Mutation, Missense

Share to Oxidoreductases

Share to Skin Pigmentation

Source

Identifiers

PMID: 21996312
DOI: 10.1016/j.jdermsci.2011.09.005

Genes

TYRP1

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

Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene.PMID 21996312Read ↗

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

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

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

Tyrosinase gene mutations in the Chinese Han population with OCA1.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 ↗

Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.Semantic proximity Read ↗

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

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

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

Tyrp1 and oculocutaneous albinism type 3.Semantic proximity Read ↗

A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype.Semantic proximity Read ↗

A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China.Semantic proximity Read ↗

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