Literature DB >> 7981705

XhoI and SphI RFLPs in the GALNS gene.

S Tomatsu1, S Fukuda, H Iwata, T Ogawa, K Sukegawa, T Orii.   

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Year:  1994        PMID： 7981705

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  7 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: structural gene alterations identified by Southern blot analysis and identification of racial differences.

Authors:  S Tomatsu; S Fukuda; A Cooper; J E Wraith; A Uchiyama; T Hori; Y Nakashima; N Yamada; K Sukegawa; N Kondo
Journal:  Hum Genet       Date:  1995-04       Impact factor: 4.132

5.  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

6.  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

7.  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
  7 in total

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