Molecular study of electron transfer flavoprotein α-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II

European Journal of Clinical Investigation

Volumn 32, Issue 9, 2002, Pages 707-712

  Purevjav, E ^a   Kimura, M ^a   Takusa, Y ^a   Ohura, T ^b   Tsuchiya, M ^a   Hara, N ^a   Fukao, T ^c   Yamaguchi, Seiji ^a  

^a SHIMANE UNIVERSITY   (Japan)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Electron transfer flavoprotein; Genotype phenotype correlation; Glutaric acidemia type II; Protein expression

Indexed keywords

COMPLEMENTARY DNA; FLAVOPROTEIN; GENOMIC DNA; PROTEIN SUBUNIT;

ACIDEMIA; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; ELECTRON TRANSPORT; FLAVOPROTEIN ALPHA SUBUNIT DEFICIENCY; GLUTARIC ACIDEMIA TYPE II; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; JAPAN; MALE; MISSENSE MUTATION; MOLECULAR BIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; RESTRICTION MAPPING;

ELECTRON-TRANSFERRING FLAVOPROTEINS; FATTY ACIDS; FIBROBLASTS; FLAVOPROTEINS; FRAMESHIFT MUTATION; GLUTARATES; HUMANS; INFANT, NEWBORN; JAPAN; MALE; METABOLISM, INBORN ERRORS; MUTATION; MUTATION, MISSENSE; PHENOTYPE; POINT MUTATION; PROTEIN ISOFORMS;

EID: 0036997992     PISSN: 00142972     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2362.2002.01045.x     Document Type: Article

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