Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis

American Journal of Human Genetics

Volumn 61, Issue 6, 1997, Pages 1318-1326

  Aral, Bernard ^a,d   Benelli, Chantai ^b   Ait Ghezala, Ghania ^a   Amessou, Mohamed ^b   Fouque, Françoise ^b   Maunoury, Catherine ^a   Créau, Nicole ^a   Kamoun, Pierre ^a   Marsac, Cécile ^a,c  

^a Lab d'Expression Genet Pathol D   (France)

^b INSERM   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d CNRS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DIHYDROLIPOAMIDE ACETYLTRANSFERASE; MESSENGER RNA; PYRUVATE DEHYDROGENASE;

ARTICLE; CASE REPORT; CHROMOSOMAL LOCALIZATION; CHROMOSOME 11P; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; HEART MUSCLE; HUMAN; HUMAN CELL; INFANT; LACTIC ACIDOSIS; MALE; NORTHERN BLOTTING; PRIORITY JOURNAL; SKELETAL MUSCLE; SKIN FIBROBLAST;

EID: 0031442222     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301653     Document Type: Article

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