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

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

European journal of dermatology : EJD - 1 Jan 2000

Lin Yu-Ying, Wei Ai-Hua, He Xin, Zhou Zhi-Yong, Lian Shi, Zhu Wei

Abstract excerpt

BACKGROUND: Oculocutaneous albinism (OCA) is a congenital genetic disorder characterized by defects in melanin production. OCA type 1 (OCA1) is the most serious and common type of OCA. This study characterized mutations associated with OCA1 in a series of Chinese patients. METHODS: We recruited 41 unrelated patients with OCA and 100 healthy subjects from the Chinese Han population. Genomic DNA was extracted from...

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 Alleles

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

Share to Child, Preschool

Share to DNA Mutational Analysis

Share to Infant

Share to Monophenol Monooxygenase

Share to Young Adult

Source

Identifiers

PMID: 24721949
DOI: 10.1684/ejd.2014.2304

Genes

TYR

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

A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.PMID 24721949Read ↗

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 ↗

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

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

TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations.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 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients.Semantic proximity Read ↗

Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).Semantic proximity Read ↗

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

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

[Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients].Semantic proximity Read ↗

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

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