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 with TYRP1 gene mutations in a Caucasian patient.

Pigment cell research - 1 Jun 2006

Rooryck Caroline, Roudaut Christel, Robine Eulalie, Müsebeck Jörg, Arveiler Benoît

Abstract excerpt

Non-syndromic oculocutaneous albinism (OCA) is a clinically and genetically heterogeneous autosomal recessive disorder with mutations identified in several genes: OCA1 (tyrosinase, TYR), OCA2 (OCA2), OCA3 (tyrosinase-related protein 1, TYRP1), and OCA4 (membrane-associated transporter protein, MATP). OCA3 was thought to be restricted to black populations, where it was clinically described as rufous or brown...

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 OCA2 gene
Share to TYRP1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Glycoproteins

Share to Mutation

Share to Oxidoreductases

Share to Pedigree

Share to White People

Source

Identifiers

PMID: 16704458
DOI: 10.1111/j.1600-0749.2006.00298.x

Genes

TYRP1
OCA2
TYR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.PMID 16704458Read ↗

Molecular and clinical characterization of albinism in a large cohort of Italian patients.Semantic proximity Read ↗

Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.Semantic proximity Read ↗

Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.Semantic proximity Read ↗

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

Molecular Characterization of Oculocutaneous Albinism in Consanguineous Pakistani Families: Unraveling Disease-Causing Pathogenic Variants in OCA2 and TYR Genes for Precision Diagnosis.Semantic proximity Read ↗

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

Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.Semantic proximity Read ↗

Identification of TYR mutations in 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 ↗

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

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

Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.Semantic proximity Read ↗

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