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Article

DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA1).

The Japanese journal of human genetics - 1 Dec 1997

Lee S T, Park S K, Lee H, Lee J S, Park Y W

Abstract excerpt

Tyrosinase-related oculocutaneous albinism (OCA1), an autosomal recessive inborn error of pigmentation, is caused by the deficiency of tyrosinase. We had previously identified two different mutations of the TYR gene in a four year old Korean male with mild OCA; a P310insC frameshift in exon 2 and an IVS2-7t-->a,-10-11deltt splice junction mutation in exon 3. Here we report a prenatal diagnostic study of a...

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Source

Identifiers

PMID: 9560949
DOI: 10.1007/BF02767026

Genes

TYR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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