Literature DB >> 7728156

Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).

E Popowska1, M Rathmann, A Tylki-Szymanska, S Bunge, C Steglich, E Schwinger, A Gal.   

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Year:  1995        PMID： 7728156     DOI： 10.1002/humu.1380050114

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  9 in total

1.  A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme.

Authors:  Dirk Roeser; Andrea Preusser-Kunze; Bernhard Schmidt; Kathrin Gasow; Julia G Wittmann; Thomas Dierks; Kurt von Figura; Markus Georg Rudolph
Journal:  Proc Natl Acad Sci U S A       Date:  2005-12-20       Impact factor: 11.205

2.  Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).

Authors:  K Isogai; K Sukegawa; S Tomatsu; T Fukao; X Q Song; Y Yamada; S Fukuda; T Orii; N Kondo
Journal:  J Inherit Metab Dis       Date:  1998-02       Impact factor: 4.982

3.  Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.

Authors:  M Rathmann; S Bunge; M Beck; H Kresse; A Tylki-Szymanska; A Gal
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

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

Authors:  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
Journal:  J Inherit Metab Dis       Date:  2008-05-20       Impact factor: 4.982

5.  Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28.

Authors:  M Rathmann; S Bunge; C Steglich; E Schwinger; A Gal
Journal:  Hum Genet       Date:  1995-01       Impact factor: 4.132

Review 6.  Hunter disease in the Spanish population: molecular analysis in 31 families.

Authors:  L Gort; A Chabás; M J Coll
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

7.  Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.

Authors:  T C Olsen; H G Eiken; P M Knappskog; B F Kase; J E Månsson; H Boman; J Apold
Journal:  Hum Genet       Date:  1996-02       Impact factor: 4.132

8.  Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome).

Authors:  H Amartino; R Ceci; F Masllorens; A Gal; C Arberas; L Bay; R Ilari; J Dipierri; N Specola; A Cabrera; P Rozenfeld
Journal:  Mol Genet Metab Rep       Date:  2014-09-17

9.  Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.

Authors:  Mary Anne D Chiong; Daffodil M Canson; Mary Ann R Abacan; Melissa Mae P Baluyot; Cynthia P Cordero; Catherine Lynn T Silao
Journal:  Orphanet J Rare Dis       Date:  2017-01-11       Impact factor: 4.123
  9 in total

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