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Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.

The New England journal of medicine - 24 Feb 1994

Lee S T, Nicholls R D, Bundey S, Laxova R, Musarella M, Spritz R A

Abstract excerpt

BACKGROUND: Type II (tyrosinase-positive) oculocutaneous albinism is an autosomal recessive disorder that has recently been mapped to chromosome segment 15q11-q13. The frequency of this disorder is greatly increased in patients with Prader-Willi or Angelman syndrome, both of which involve deletio...

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Mutation
Molecular Sequence Data
Base Sequence
Amino Acid Sequence
Child
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Child, Preschool

Membrane Proteins

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PMID: 8302318
DOI: 10.1056/NEJM199402243300803

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-8302318-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.PMID 8302318Read ↗

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