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 tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)
โ Scribed by Richard A. Spritz; Jangsuk Oh; Kazuyoshi Fukai; Stuart A. Holmes; Lingling Ho; David Chitayat; Thomas D. France; Maria A. Musarella; Seth J. Orlow; Rhonda E. Schnur; Richard G. Weleber; Alex V. Levin
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 127 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
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
Type I oculocutaneous albinism (OCA1) is an autosomal recessive disorder, which is caused by the reduction or the absence of tyrosinase activity in melanocytes of the skin, hair and eyes. Although tyrosinase mutations of OCA1 have been extensively analyzed in most populations worldwide, there is no