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Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)

โœ Scribed by Richard A. Spritz; Seung-Taek Lee; Kazuyoshi Fukai; Karen Brondum-Nielsen; David Chitayat; Mark H. Lipson; Maria A. Musarella; Ada Rosenmann; Richard G. Weleber


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
113 KB
Volume
10
Category
Article
ISSN
1059-7794

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Patient 70, who was stated to have the mutation R77C, an arginine to cysteine amino acid substitution, was incorrectly reported. The mutation should have been R77W, an arginine to tryptophan amino acid substitution, which has been previously reported by Spritz et al. (1997). This change should also