Literature DB >> 8664909

Mutation analysis in 20 patients with Hunter disease.

S L Goldenfum1, E Young, H Michelakakis, S Tsagarakis, B Winchester.   

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Year:  1996        PMID： 8664909     DOI： 10.1002/(SICI)1098-1004(1996)7:1<76::AID-HUMU14>3.0.CO;2-P

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


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  12 in total

1.  Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.

Authors:  Camelia Alkhzouz; Cecilia Lazea; Simona Bucerzan; Ioana Nascu; Eva Kiss; Carmencita Lucia Denes; Paula Grigorescu-Sido
Journal:  JIMD Rep       Date:  2016-06-29

2.  Germline and somatic mosaicism in a female carrier of Hunter disease.

Authors:  R Froissart; I Maire; V Bonnet; T Levade; D Bozon
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

3.  Long-term follow-up following bone marrow transplantation for Hunter disease.

Authors:  A Vellodi; E Young; A Cooper; V Lidchi; B Winchester; J E Wraith
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

4.  Epidemiology of mucopolysaccharidoses.

Authors:  Shaukat A Khan; Hira Peracha; Diana Ballhausen; Alfred Wiesbauer; Marianne Rohrbach; Matthias Gautschi; Robert W Mason; Roberto Giugliani; Yasuyuki Suzuki; Kenji E Orii; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2017-05-26       Impact factor: 4.797

5.  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

6.  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

7.  Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.

Authors:  K Sukegawa-Hayasaka; Z Kato; H Nakamura; S Tomatsu; T Fukao; K Kuwata; T Orii; N Kondo
Journal:  J Inherit Metab Dis       Date:  2006-11-07       Impact factor: 4.982

8.  Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease).

Authors:  E Vafiadaki; A Cooper; L E Heptinstall; C E Hatton; M Thornley; J E Wraith
Journal:  Arch Dis Child       Date:  1998-09       Impact factor: 3.791

Review 9.  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

10.  Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing.

Authors:  Huiwen Zhang; Jing Li; Xinshun Zhang; Yu Wang; Wenjuan Qiu; Jun Ye; Lianshu Han; Xiaolan Gao; Xuefan Gu
Journal:  PLoS One       Date:  2011-08-04       Impact factor: 3.240
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