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Article

Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.

Journal of dermatological science - 1 Sept 2004

Goto Maki, Sato-Matsumura Kazuko C, Sawamura Daisuke, Yokota Koichi, Nakamura Hideki, Shimizu Hiroshi

Abstract excerpt

BACKGROUND: Oculocutaneous albinism (OCA) is a heterogeneous congenital disorder. Tyrosinase is a key enzyme in melanin biosynthesis, and tyrosinase gene mutations cause the OCA1 subtype. OBJECTIVE: This study was intended evaluate the frequency and details of tyrosinase gene mutations in Japanese OCA patients. PATIENTS AND METHODS: We examined nine non-consanguineous OCA families, sequenced the tyrosinase gene...

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PMID: 15381243
DOI: 10.1016/j.jdermsci.2004.06.007

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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.

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