H. Fukushima

发表

Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy.

M. Taniike, M. Taniike, H. Fujimura, 1992, Biochemical and biophysical research communications.

Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization.

K. Ozono, L. Fu, K. Inui, 1998, Biochimica et biophysica acta.

Chromogenic immunodetection of human serum albumin and alpha-L-fucosidase clones in a human hepatoma cDNA expression library.

D. Helinski, J. O'brien, J. D. de Wet, 1984, DNA.

Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase.

A. Iwamatsu, N. Fujii, Y. Isegawa, 1994, Biochemical and biophysical research communications.

Molecular Cloning and Expression of cDNA for Murine Galactocerebrosidase and Mutation Analysis of the Twitcher Mouse, a Model of Krabbe's Disease

M. Taniike, K. Ozono, K. Inui, 1996, Journal of neurochemistry.

Structure and sequence of the human α-l-fucosidase gene and pseudogene

K. Kretz, J. O'brien, G. S. Carson, 1992 .

Allele frequencies of intragenic, and 5′ and 3′ markers of the dystrophin gene in Japanese families afflicted with Duchenne or Becker muscular dystrophy

K. Inui, H. Tsukamoto, S. Okada, 1996, Japanese Journal of Human Genetics.

Chromosome 1 localization of the human alpha-L-fucosidase structural gene with a homologous site on chromosome 2.

R. Eddy, T. Shows, H. Nakai, 1986, Cytogenetics and cell genetics.

Mutation analysis of a Japanese patient with fucosidosis

H. Kurahashi, L. Fu, K. Inui, 1999, Journal of Human Genetics.

Molecular biology of the alpha-L-fucosidase gene and fucosidosis.

T. Shows, J. Darby, P. Willems, 1987, Enzyme.

Molecular study of duchenne and Becker muscular dystrophies in Japanese

M. Taniike, K. Inui, T. Nishigaki, 1991, Journal of Inherited Metabolic Disease.

Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNA(Leu(UUR)) gene.

M. Taniike, K. Inui, T. Nishigaki, 1992, The Journal of pediatrics.

Molecular cloning of a cDNA for human o !-L-fucosidase ( antibody screening / DNA sequence analysis / hepatoma cDNA expression library )

J. O'brien, H. Fukushima, J. R. D. WETt, 2003 .

Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes.

Y. Kagawa, J. Hayashi, S. Ohta, 1994, The Journal of biological chemistry.

Detection of the A to G(3243) mutation of mitochondrial DNA in Japanese families with mitochondrial encephalomyopathies

M. Taniike, K. Inui, T. Nishigaki, 1992, Journal of Inherited Metabolic Disease.