Concepedia

Two new mutations, Q473X and N487S, in a caucasian patient with mucopolysaccharidosis IVA (Morquio disease)

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

Human Mutation · 1995 · 16 citations · 6 references

DOI

Concepts

References

6

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

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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

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Mucopolysaccharidosis IV A: Assignment of the Human N-Acetylgalactosamine-6-Sulfate Sulfatase (GALNS) Gene to Chromosome 16q24

Mitsuo Masuno, Shunji Tomatsu, Yoshihiro Nakashima et al. · Genomics · 1993 · 63 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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A novel splice site mutation intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA

Shunji Tomatsu, Seiji Fukuda, Tatsuya Ogawa et al. · Human Molecular Genetics · 1994 · 26 citations

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