Hunter syndrome is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). The IDS deficiency can be caused by several different types of mutations in the IDS gene. We have performed a molecular and mutation analysis of a total of 19 unrelat
Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)
โ 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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๐ SIMILAR VOLUMES
Hunter syndrome is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). The IDS deficiency can be caused by several different types of mutations in the IDS gene. We have performed a molecular and mutation analysis of a total of 19 unrelat
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
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