Literature DB >> 7987329

A novel splice site mutation in intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA.

S Tomatsu1, S Fukuda, T Ogawa, Z Kato, K Isogai, N Kondo, Y Suzuki, N Shimozawa, K Sukegawa, T Orii.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1994        PMID： 7987329     DOI： 10.1093/hmg/3.8.1427

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


× No keyword cloud information.
  8 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.  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

3.  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

4.  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

5.  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

6.  Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.

Authors:  Adriana Maria Montaño; Ilkka Kaitila; Kazuko Sukegawa; Shunji Tomatsu; Zenichiro Kato; Haruki Nakamura; Seiji Fukuda; Tadao Orii; Naomi Kondo
Journal:  Hum Genet       Date:  2003-04-30       Impact factor: 4.132

7.  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

8.  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
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.