Literature DB >> 9452036

Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease.

S Tomatsu1, S Fukuda, A Cooper, J E Wraith, A Yamagishi, Z Kato, N Yamada, K Isogai, K Sukegawa, Y Suzuki, N Shimozawa, N Kondo, T Orii.   

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Year:  1998        PMID： 9452036     DOI： 10.1002/humu.1380110115

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  2 in total

1.  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

2.  Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.

Authors:  Shunji Tomatsu; Tatiana Dieter; Ida V Schwartz; Piedad Sarmient; Roberto Giugliani; Luis A Barrera; Norberto Guelbert; Raquel Kremer; Gabriela M Repetto; Monica A Gutierrez; Tatsuo Nishioka; Olga Peña Serrato; Adriana Maria Montaño; Seiji Yamaguchi; Akihiko Noguchi
Journal:  J Hum Genet       Date:  2004-08-11       Impact factor: 3.172
  2 in total

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