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Article

Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.

The Journal of investigative dermatology - 1 May 2003

Suzuki Tamio, Miyamura Yoshinori, Matsunaga Jun, Shimizu Hiroshi, Kawachi Yasuhiro, Ohyama Naoko, Ishikawa Osamu, Ishikawa Tomoyuki, Terao Hiroshi, Tomita Yasushi

Abstract excerpt

Type 2 oculocutaneous albinism (OCA2) is an autosomal recessive disorder that results from mutations in the P gene that codes one of the melanosomal proteins, the function of which remains unknown. In this paper, we report the frequency of OCA2, 8%, among the Japanese albino population, six novel mutations containing four missense substitutions (P198L, P211L, R10W, M398I), and two splice site mutations (IVS15+1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 12713581
DOI: 10.1046/j.1523-1747.2003.12127.x

Genes

OCA2

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.

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