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S Tomatsu

Showing results (71-80 of 108) with videos related to

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Human Mutation|January 1, 1996
Mucopolysaccharidosis IVA (Morquio A): three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase geneS Fukuda, S Tomatsu, A Cooper, et al.
Human Genetics|March 1, 1995
Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese populationH Iwata, S Tomatsu, S Fukuda, et al.
Human Genetics|April 1, 1995
Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differencesS Tomatsu, S Fukuda, A Cooper, et al.
Human Molecular Genetics|May 18, 2000
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypesK Sukegawa, H Nakamura, Z Kato, et al.
Human Mutation|January 1, 1995
Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease)S Tomatsu, S Fukuda, A Cooper, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 16, 1997
Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosisS Parkkila, A Waheed, R S Britton, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 19, 2000
Transferrin receptor 2: continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosisR E Fleming, M C Migas, C C Holden, et al.
Human Molecular Genetics|April 1, 1995
Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patientsS Tomatsu, S Fukuda, A Cooper, et al.
American Journal of Human Genetics|September 1, 1995
Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase geneS Tomatsu, S Fukuda, A Cooper, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 28, 2001
Active site mutant transgene confers tolerance to human beta-glucuronidase without affecting the phenotype of MPS VII miceW S Sly, C Vogler, J H Grubb, et al.
Pageof 11

Showing results (71-80 of 108) with videos related to

Sort By:
Pageof 11
Human Mutation|January 1, 1996
Mucopolysaccharidosis IVA (Morquio A): three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase geneS Fukuda, S Tomatsu, A Cooper, et al.
Human Genetics|March 1, 1995
Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese populationH Iwata, S Tomatsu, S Fukuda, et al.
Human Genetics|April 1, 1995
Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differencesS Tomatsu, S Fukuda, A Cooper, et al.
Human Molecular Genetics|May 18, 2000
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypesK Sukegawa, H Nakamura, Z Kato, et al.
Human Mutation|January 1, 1995
Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease)S Tomatsu, S Fukuda, A Cooper, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 16, 1997
Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosisS Parkkila, A Waheed, R S Britton, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 19, 2000
Transferrin receptor 2: continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosisR E Fleming, M C Migas, C C Holden, et al.
Human Molecular Genetics|April 1, 1995
Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patientsS Tomatsu, S Fukuda, A Cooper, et al.
American Journal of Human Genetics|September 1, 1995
Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase geneS Tomatsu, S Fukuda, A Cooper, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 28, 2001
Active site mutant transgene confers tolerance to human beta-glucuronidase without affecting the phenotype of MPS VII miceW S Sly, C Vogler, J H Grubb, et al.
Pageof 11