Concepedia

Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: Diagnostic implications in morquio disease

Shunji Tomatsu, Seiji Fukuda, Alan Cooper, J. E. Wraith, Atsushi Yamagishi, Zenichiro Kato, Naoto Yamada, Kouji Isogai, Kazuko Sukegawa, Yasuyuki Suzuki,

Human Mutation · 1998 · 12 citations · 11 references

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References

11

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

Shunji Tomatsu, Seiji Fukuda, Michiya Masue et al. · Biochemical and Biophysical Research Communications · 1991 · 159 citations

, , +8

Mucopolysaccharidosis IV A: Molecular Cloning of the Human N-Acetylgalactosamine-6-sulfatase Gene (GALNS) and Analysis of the 5′-Flanking Region

Yoshihiro Nakashima, Shunji Tomatsu, Toshinori Hori et al. · Genomics · 1994 · 89 citations

, , +7

Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene

Tatsuya Ogawa, Shunji Tomatsu, Seiji Fukuda et al. · Human Molecular Genetics · 1995 · 71 citations

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

Seiji Fukuda, Shunji Tomatsu, Michiya Masue et al. · Journal of Clinical Investigation · 1992 · 59 citations · Full text

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

Shunji Tomatsu, Seiji Fukuda, Alan Cooper et al. · PubMed · 1995 · 55 citations

, , +10