✦ LIBER ✦

Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome

✍ Scribed by Peining Li; Paula Huffman; Jerry N. Thompson

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 513 KB
Volume: 5
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380050314

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

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 in the iduronate-2-sulfatase g

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

✍ Laura Gort; M. Josep Coll; Amparo Chabás 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 293 KB

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

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

Mucopolysaccharidosis type II (Hunter di

Mucopolysaccharidosis type II (Hunter disease): Identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients

✍ Kazuko Sukegawa; Shunji Tomatsu; Toshiyuki Fukao; Hideki Iwata; Xiang-Qian Song; 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 693 KB

## 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