## Communicated by Yusuke Nakamura Mucopolysaccharidosis type If (Hunter disease) is a lysosomal storage disorder caused by a deficiency of the enzyme iduronate-2-sulfatase. Varied clinical phenotypes of this disease have been described. To identify mutations in individual patients and to examine
Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families
โ Scribed by Yukiji Yamada; Shunji Tomatsu; Kazuko Sukegawa; Yasuyuki Suzuki; Naomi Kondo; John J. Hopwood; Tadao Orii
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 735 KB
- Volume
- 92
- Category
- Article
- ISSN
- 0340-6717
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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
## Communicated by Francesco Giannelli Mucopolysaccharidosis type I1 (MI'S 11) is an X-chromosomal storage disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase
DNA-based mutation analysis on the connexin 32 gene was performed in 49 families with Charcot-Marie-Tooth disease (CMT) type 1 but without duplication involving the chromosomal region, 17p12-p11.2. Mutations were identified in five of the 49 families, and four of the five mutations were hitherto und