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AC-026 Mutation screening of tyrosinase gene and P gene in two Chinese patients with oculocutaneous albinism

✍ Scribed by C Dai; W Li; XD Gao; LY Li; GX Lu

Book ID: 119612390
Publisher: Reproductive Healthcare Ltd
Year: 2006
Tongue: English
Weight: 117 KB
Volume: 12
Category: Article
ISSN: 1472-6491
DOI: 10.1016/s1472-6483(11)60474-4

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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 publ