Citation
S. Karsten et al., Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients, HUM GENET, 103(6), 1998, pp. 732-735
Citations number
6
Categorie Soggetti
Molecular Biology & Genetics
Journal title
HUMAN GENETICS
ISSN journal
03406717
→ ACNP
Volume
103
Issue
6
Year of publication
1998
Pages
732 - 735
Database
ISI
SICI code
0340-6717(199812)103:6<732:MSOTI(>2.0.ZU;2-O
Abstract
We present a mutational analysis of the iduronate-2-sulfatase (IDS) gene of
36 Russian patients with Hunter syndrome. Among 29 mutant alleles, there w
ere 19 missense mutations, 1 nonsense mutation, 6 mutations affecting splic
e sites, and 3 major structural alterations resulting in deletions. Of the
25 different mutations, 15 are novel and unique. Most of the missense mutat
ions result in intermediate or severe phenotypes.