Literature DB >> 7837767

Molecular analysis by Southern blot for the N-acetylgalactosamine-6-sulphate sulphatase gene causing mucopolysaccharidosis IVA in the Japanese population.

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

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Year:  1994        PMID： 7837767     DOI： 10.1007/bf00711598

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


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  5 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 type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.

Authors:  S Fukuda; S Tomatsu; M Masue; K Sukegawa; H Iwata; T Ogawa; Y Nakashima; T Hori; A Yamagishi; Y Hanyu
Journal:  J Clin Invest       Date:  1992-09       Impact factor: 14.808

4.  N-acetylgalactosamine-6-sulfate sulfatase in human placenta: purification and characteristics.

Authors:  M Masue; K Sukegawa; T Orii; T Hashimoto
Journal:  J Biochem       Date:  1991-12       Impact factor: 3.387

5.  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
  5 in total
  1 in total

1.  Expression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphatase.

Authors:  J Bielicki; M Fuller; X H Guo; C P Morris; J J Hopewood; D S Anson
Journal:  Biochem J       Date:  1995-10-01       Impact factor: 3.857
  1 in total

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