Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism.

doi:10.1016/j.jdermsci.2004.06.007

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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...

Topics

Adolescent
Albinism, Oculocutaneous
Child
Databases, Genetic
Eye Color
Female
Humans
Infant
Infant, Newborn
Japan
Male
Monophenol Monooxygenase
Mutation
Skin Pigmentation

Source

Open in PubMed

Identifiers

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

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