Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency

Molecular Genetics and Metabolism

Volumn 64, Issue 2, 1998, Pages 152-154

  Pomponio, Robert J ^a   Yamaguchi, Akihiro ^b   Arashima, Shinichiro ^c   Hymes, Jeanne ^a   Wolf, Barry ^a  

^a VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Sapporo City Institute of Public Health   (Japan)

^c HOKKAIDO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBODY; BIOTIN; BIOTINIDASE; DNA; HYDROLASE;

ARTICLE; CASE REPORT; CHILD; COLORIMETRY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; GENE; GENE MUTATION; GLYCOSYLATION; HUMAN; JAPAN; MALE; ORAL DRUG ADMINISTRATION; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0031682317     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1998.2706     Document Type: Article

References (15)

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