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
Erratum: Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1)
โ Scribed by W.S. Oetting; J.P. Fryer; R.A. King
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 4 KB
- Volume
- 13
- Category
- Article
- ISSN
- 1059-7794
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โฆ Synopsis
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 be made in Table and
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