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

Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper.

Dermatology (Basel, Switzerland) - 1 Jan 1998

Matsunaga J, Dakeishi-Hara M, Miyamura Y, Nakamura E, Tanita M, Satomura K, Tomita Y

Abstract excerpt

BACKGROUND: A large number of mutations of the tyrosinase gene result in oculocutaneous albinism (OCA). Therefore, at present, sequence analysis of the tyrosinase gene has become necessary to diagnose OCA patients and their relatives. OBJECTIVE: The aim of this study was to facilitate the sequence-based diagnosis of tyrosinase-related OCA by using small amounts of the patient's blood. METHODS: Blood spots dried...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to DNA

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

Share to DNA Mutational Analysis

Share to Genotype

Share to Mutation

Share to Sequence Analysis, DNA

Share to Sequence Homology, Nucleic Acid

Source

Identifiers

PMID: 9568405
DOI: 10.1159/000017897

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper.PMID 9568405Read ↗

Molecular basis of oculocutaneous albinism type 1 in Lebanese patients.Semantic proximity Read ↗

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

Establishment of tyrosinase sequence database in normally pigmented Indians and Japanese for rapid determination of novel mutations.Semantic proximity Read ↗

Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.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 ↗

Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.Semantic proximity Read ↗

Mutation analysis of the tyrosinase gene in oculocutaneous albinism.Semantic proximity Read ↗

Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani familiesSemantic proximity Read ↗

Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.Semantic proximity Read ↗

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

Molecular genetics of oculocutaneous albinism.Semantic proximity Read ↗

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