Literature DB >> 7860078

Polymerase chain reaction detection of two novel human N-acetylgalactosamine-6-sulfate sulfatase gene polymorphisms by single-strand conformation polymorphism analysis or by StyI and StuI cleavages.

S Tomatsu1, S Fukuda, A Uchiyama, T Hori, Y Nakashima, K Sukegawa, N Kondo, Y Suzuki, N Shimozawa, T Orii.   

Abstract

We describe two common single-base polymorphisms of the N-acetylgalactosamine-6-sulfate sulfatase gene after StyI or StuI restriction sites. These polymorphisms were readily detected by single-strand conformation polymorphism (SSCP), using the polymerase chain reaction (PCR).

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Year:  1995        PMID： 7860078     DOI： 10.1007/bf00209415

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  3 in total

1.  Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase.

Authors:  S Tomatsu; S Fukuda; M Masue; K Sukegawa; T Fukao; A Yamagishi; T Hori; H Iwata; T Ogawa; Y Nakashima
Journal:  Biochem Biophys Res Commun       Date:  1991-12-16       Impact factor: 3.575

2.  Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24.

Authors:  M Masuno; S Tomatsu; Y Nakashima; T Hori; S Fukuda; M Masue; K Sukegawa; T Orii
Journal:  Genomics       Date:  1993-06       Impact factor: 5.736

3.  Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region.

Authors:  Y Nakashima; S Tomatsu; T Hori; S Fukuda; K Sukegawa; N Kondo; Y Suzuki; N Shimozawa; T Orii
Journal:  Genomics       Date:  1994-03-01       Impact factor: 5.736
  3 in total
  6 in total

1.  Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

Authors:  S Tomatsu; S Fukuda; A Yamagishi; A Cooper; J F Wraith; T Hori; Z Kato; N Yamada; K Isogai; K Sukegawa; N Kondo; Y Suzuki; N Shimozawa; T Orii
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

2.  Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: implication in Morquio A disease.

Authors:  Souhir Khedhiri; Latifa Chkioua; Salima Ferchichi; Abdelhedi Miled; Sandrine Laradi
Journal:  Diagn Pathol       Date:  2011-01-20       Impact factor: 2.644

3.  Mucopolysaccharidosis IVA: a comparative study of polymorphic DNA haplotypes in the Caucasian and Japanese populations.

Authors:  G M Rezvi; S Tomatsu; S Fukuda; A Yamagishi; A Cooper; J E Wraith; H Iwata; Z Kato; N Yamada; K Sukegawa; N Shimozawa; Y Suzuki; N Kondo; T Orii
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

4.  Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.

Authors:  S Tomatsu; S Fukuda; A Cooper; J E Wraith; G M Rezvi; A Yamagishi; N Yamada; Z Kato; K Isogai; K Sukegawa
Journal:  Am J Hum Genet       Date:  1995-09       Impact factor: 11.025

5.  Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population.

Authors:  H Iwata; S Tomatsu; S Fukuda; A Uchiyama; G M Rezvi; T Ogawa; T Hori; Y Nakashima; A Yamagishi; K Sukegawa
Journal:  Hum Genet       Date:  1995-03       Impact factor: 4.132

6.  Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.

Authors:  Latifa Chkioua; Souhir Khedhiri; Hind Hafsi; Oussama Grissa; Hadhami Ben Turkia; Abdelhedi Miled; Sandrine Laradi; Roseline Froissart; Najat Alif
Journal:  Diagn Pathol       Date:  2016-06-17       Impact factor: 2.644
  6 in total

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