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Article

Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.

American journal of human genetics - 1 Mar 2004

Inagaki Katsuhiko, Suzuki Tamio, Shimizu Hiroshi, Ishii Norihisa, Umezawa Yoshinori, Tada Joji, Kikuchi Noriaki, Takata Minoru, Takamori Kenji, Kishibe Mari, Tanaka Michi, Miyamura Yoshinori, Ito Shiro, Tomita Yasushi

Abstract excerpt

Oculocutaneous albinism (OCA) is a complex genetic disease with great clinical heterogeneity. Four different types of OCA have been reported to date (OCA1, OCA2, OCA3, and OCA4). MATP was recently reported in a single Turkish OCA patient as the fourth pathological gene, but no other patients with OCA4 have been reported. Here, we report the mutational profile of OCA4, determined by genetic analysis of the MATP...

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Identifiers

PMID: 14961451
DOI: 10.1086/382195
PMCID: PMC1182260

Genes

OCA2

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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