Molecular characterisation of glutamate dehydrogenase gene defects in Japanese patients with congenital hyperinsulinism/hyperammonaemia

European Journal of Human Genetics

Volumn 9, Issue 12, 2001, Pages 931-937

  Fujioka, Hiroki ^a   Okano, Yoshiyuki ^a   Inada, Hiroshi ^a   Asada, Minoru ^a   Kawamura, Tomoyuki ^a   Hase, Yutaka ^a   Yamano, Tsunekazu ^a  

^a OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Glutamate dehydrogenase; Hyperammonaemia; Hyperinsulinism; Hypoglycaemia

Indexed keywords

ADENOSINE DIPHOSPHATE; GLUTAMATE DEHYDROGENASE; GUANOSINE TRIPHOSPHATE;

ALPHA HELIX; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BINDING SITE; CASE REPORT; CELL STRAIN COS1; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVATION; ENZYME ACTIVITY; ENZYME INHIBITION; ENZYME STRUCTURE; GENE MUTATION; HUMAN; HUMAN CELL; HYPERAMMONEMIA; HYPERINSULINISM; JAPAN; LYMPHOBLAST; MALE; MOLECULAR GENETICS; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REGULATORY MECHANISM; SCHOOL CHILD;

ANIMALS; CHILD; CHILD, PRESCHOOL; COS CELLS; GENOTYPE; GLUTAMATE DEHYDROGENASE; HUMANS; HYPERAMMONEMIA; HYPERINSULINISM; INFANT; INFANT, NEWBORN; JAPAN; MALE; MUTATION, MISSENSE; PHENOTYPE;

ANIMALIA; BOVINAE;

EID: 0035712268     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200749     Document Type: Article

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