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Article

Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).

Human mutation - 1 Jan 1997

Spritz R A, Lee S T, Fukai K, Brondum-Nielsen K, Chitayat D, Lipson M H, Musarella M A, Rosenmann A, Weleber R G

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Source

Identifiers

PMID: 9259203
DOI: 10.1002/(SICI)1098-1004(1997)10:2<175::AID-HUMU12>3.0.CO;2-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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Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).PMID 9259203Read ↗

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Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II.Semantic proximity Read ↗

[Mutations and polymorphisms of the P gene associated with oculocutaneous albinism type II].Semantic proximity Read ↗

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[A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis].Semantic proximity Read ↗

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutationsSemantic proximity Read ↗

Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).Semantic proximity Read ↗

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