Literature DB >> 8318991

Hunter syndrome: gene deletions and rearrangements.

R Froissart1, J L Blond, I Maire, P Guibaud, J J Hopwood, M Mathieu, D Bozon.   

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Year:  1993        PMID： 8318991     DOI： 10.1002/humu.1380020214

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


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  6 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.  Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue.

Authors:  G Millat; R Froissart; I Maire; D Bozon
Journal:  Biochem J       Date:  1997-08-15       Impact factor: 3.857

Review 4.  Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed.

Authors:  S Al Sawaf; E Mayatepek; B Hoffmann
Journal:  J Inherit Metab Dis       Date:  2008-07-13       Impact factor: 4.982

5.  Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.

Authors:  J J Jonsson; E L Aronovich; S E Braun; C B Whitley
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

6.  Processing of iduronate 2-sulphatase in human fibroblasts.

Authors:  R Froissart; G Millat; M Mathieu; D Bozon; I Maire
Journal:  Biochem J       Date:  1995-07-15       Impact factor: 3.857
  6 in total

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