𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with hunter disease

✍ Scribed by Laura Gort; M. Josep Coll; Amparo Chabás

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
293 KB
Volume
11
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations of the iduronate-2-sulfatase g
Mutations of the iduronate-2-sulfatase gene in 12 Polish. Patients with mucopolysaccharidosis type II (Hunter syndrome)
✍ Ewa Popowska; Michaela Rathmann; Anna Tylki-Szymanska; Susanna Bunge; Cordula St 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 478 KB 👁 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

Mutations of the iduronate-2-sulfatase (
Mutations of the iduronate-2-sulfatase (IDS) gene in patients with hunter syndrome (mucopolysaccharidosis II)
✍ Winnie Schröder; Karin Wulff; Manfred Wehnert; Günter Seidlitz; Falko H. Herrman 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 351 KB 👁 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

Detection of four novel mutations in the
Detection of four novel mutations in the iduronate-2-sulfatase gene
✍ Nicola Balzano; Guglielmo R. D. Villani; Michela Grosso; Paola Izzo; Paola Di Na 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 63 KB 👁 2 views

Hunter disease, mucopolysaccharidosis type II or MPS II (OMIM \*309900) iduronate-2-sulfatase : IDS (GDB) Abbreviations amplification refractory system : ARMS, iduronate-2-sulfatase : IDS

Mutational spectrum of the iduronate 2 s
Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: Identification of 13 novel mutations
✍ Chi Hwa Kim; Hye Zin Hwang; Seng Mi Song; Kyung Hoon Paik; Eun Kyung Kwon; Kwang 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 143 KB 👁 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
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene
✍ Mirella Filocamo; Gloria Bonuccelli; Fabio Corsolini; Raffaella Mazzotti; Robert 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 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

Mutation analysis of iduronate-2-sulphat
Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: Characterisation of 6 novel mutations
✍ Catherine Hartog; Alan Fryer; Meena Upadhyaya 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 39 KB 👁 2 views

Hunter syndrome is a rare, X-linked, recessively inherited disease affecting approximately 1 in 132,000 males. The disease is caused by the inability to degrade dermatan sulphate and heparan sulphate due to mutations in the iduronate-2-sulphatase gene (IDS). The mutations causing the disorder are he