Literature DB >> 8830188

Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons.

P Li1, J N Thompson.   

Abstract

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Year:  1996        PMID： 8830188     DOI： 10.1007/bf01799358

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase.

Authors:  G Bach; F Eisenberg; M Cantz; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1973-07       Impact factor: 11.205

2.  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

3.  Sequence of the human iduronate 2-sulfatase (IDS) gene.

Authors:  P J Wilson; C A Meaney; J J Hopwood; C P Morris
Journal:  Genomics       Date:  1993-09       Impact factor: 5.736
  3 in total
  2 in total

1.  Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome.

Authors:  Johanna Galvis; Jannet González; Alfredo Uribe; Harvy Velasco
Journal:  JIMD Rep       Date:  2015-02-15

2.  Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).

Authors:  P Li; A B Bellows; J N Thompson
Journal:  J Med Genet       Date:  1999-01       Impact factor: 6.318
  2 in total

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