𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome

✍ Scribed by S. Keeratichamroen; J. R. Ketudat Cairns; D. Wattanasirichaigoon; P. Wasant; L. Ngiwsara; P. Suwannarat; S. Pangkanon; J. Kuptanon; P. Tanpaiboon; T. Rujirawat; S. Liammongkolkul; J. Svasti


Publisher
Springer
Year
2008
Tongue
English
Weight
144 KB
Volume
31
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Mutations of the iduronate-2-sulfatase (
✍ Winnie SchrΓΆder; Karin Wulff; Manfred Wehnert; GΓΌnter Seidlitz; Falko H. Herrman πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 351 KB πŸ‘ 1 views

Communicated by Jurgen Horsr Genomic DNA and cDNA from fibroblasts from nine unrelated German patients with X-linked iduronate-2-sulfatase (IDS) deficiency showing variable clinical manifestation were screened for point mutations and small structural aberrations. Direct sequencing revealed a splice

Mutations of the iduronate-2-sulfatase g
✍ Ewa Popowska; Michaela Rathmann; Anna Tylki-Szymanska; Susanna Bunge; Cordula St πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 478 KB πŸ‘ 1 views

## 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

Mutational spectrum of the iduronate 2 s
✍ Chi Hwa Kim; Hye Zin Hwang; Seng Mi Song; Kyung Hoon Paik; Eun Kyung Kwon; Kwang πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 143 KB πŸ‘ 1 views

Hunter syndrome (Mucopolysaccharidosis type II, MPS2) is an X-linked recessively inherited disease caused by a deficiency of iduronate 2 sulfatase (IDS). In this study, we investigated mutations of the IDS gene in 25 Korean Hunter syndrome patients. We identified 20 mutations, of which 13 mutations

Molecular analysis of 40 Italian patient
✍ Mirella Filocamo; Gloria Bonuccelli; Fabio Corsolini; Raffaella Mazzotti; Robert πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 34 KB πŸ‘ 1 views

Mucopolysaccharidosis type II (MPS2, or Hunter syndrome), rare X-linked lysosomal storage disorder, results from deleterious mutations in the iduronate-2-sulfatase (IDS) gene. We report here the mutational analysis of a total of 40 unrelated Italian MPS II patients ranging from mild to severe phenot