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Article

Molecular basis of type IA (tyrosinase negative) oculocutaneous albinism.

Pigment cell research - 1 Jan 1992

King R A, Oetting W S

Abstract excerpt

Type IA (Tyrosinase negative) oculocutaneous albinism (OCA) is produced by mutations of the tyrosinase gene. We have found a total of 13 different mutations associated with type IA OCA. Analysis of the distribution of the 9 missense mutations shows that most of these mutations cluster in three areas of the gene. All but one of these mutations involve amino acids that are conserved between the mouse and human. Two...

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PMID: 1409426
DOI: 10.1111/j.1600-0749.1990.tb00380.x

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