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Article

Identification and characterization of a DNase hypersensitive region of the human tyrosinase gene.

Pigment cell research - 1 Dec 2003

Fryer James P, Oetting William S, King Richard A

Abstract excerpt

Mutations of the tyrosinase gene produce oculocutaneous albinism type 1 (OCA1). Most affected individuals are compound heterozygotes with different maternal and paternal mutations, but a substantial number of presumed tyrosinase alleles in these individuals have no identifiable mutation in the coding or proximal promoter region of the gene. This suggests that mutations in other regions of the gene, such as...

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Identifiers

PMID: 14629726
DOI: 10.1046/j.1600-0749.2003.00099.x

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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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