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Hum Mutat. 2004 Jun;23(6):630-1.

Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.

Author information

1
Institut für Humangenetik der Universität Lübeck, 23538 Lübeck, Germany.

Abstract

Oculocutaneous albinism (OCA) in man may be caused by mutations within the tyrosinase gene (TYR) resulting in OCA1. Analysing patients with recessively inherited albinism we found DNA variations in 82 unrelated individuals. 53 out of 78 mutations and polymorphisms revealed by this study are not published previously. The changes include 68 nucleotide substitutions resulting in amino acid changes, stop mutations and polymorphisms as well as four nucleotide insertions and six deletions. Furthermore, we found an accumulation of three to five mutations in 17 patients with OCA1.

PMID:
15146472
DOI:
10.1002/humu.9248
[Indexed for MEDLINE]

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