Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene

Molecular Genetics and Metabolism

Volumn 76, Issue 4, 2002, Pages 344-347

  Dey, Runu ^a   Aral, Bernard ^a   Abitbol, Marc ^a   Marsac, Cecile ^a  

^a Institut Fédératif de Recherche 94   (France)

Author keywords

E3 binding protein; Mutations; PDX1 gene; Pyruvate dehydrogenase complex deficiency

Indexed keywords

BINDING PROTEIN; COMPLEMENTARY DNA; DIHYDROLIPOAMIDE DEHYDROGENASE; DINUCLEOTIDE; PYRUVATE DEHYDROGENASE;

ARTICLE; BASE PAIRING; CASE REPORT; CONTROLLED STUDY; EXON; GENE ACTIVATION; GENE MUTATION; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; RNA SPLICING;

AMINO ACID SEQUENCE; BASE SEQUENCE; HUMANS; LACTIC ACID; LEIGH DISEASE; MOLECULAR SEQUENCE DATA; MUTATION; PEPTIDES; PYRUVATE DEHYDROGENASE COMPLEX; RNA SPLICE SITES; SEQUENCE DELETION;

EID: 0036389767     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(02)00104-X     Document Type: Article

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