A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

Human Genetics

Volumn 113, Issue 2, 2003, Pages 118-122

  Haut, Sandrine ^a   Brivet, Michèle ^a   Touati, Guy ^b   Rustin, Pierre ^b   Lebon, Sophie ^b   Garcia Cazorla, Angela ^b   Saudubray, Jean Marie ^b   Boutron, Audrey ^a   Legrand, Alain ^a   Slama, Abdelhamid ^a  

^a BICÊTRE HOSPITAL   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; AMINOTRANSFERASE; BICARBONATE; BINDING PROTEIN; COMPLEMENTARY DNA; CYTOCHROME B; GLUCOSE; MITOCHONDRIAL DNA; NUCLEOTIDE; UBIQUINOL CYTOCHROME C REDUCTASE; UBIQUINONE;

AMINO ACID SEQUENCE; AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHILD; CLINICAL ARTICLE; COMPLEX III DEFICIENCY; CONSANGUINITY; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; GENE DELETION; GENE SEQUENCE; GENETIC HETEROGENEITY; HOMOZYGOSITY; HUMAN; HYPERLACTATEMIA; HYPOGLYCEMIA; ISOLATION PROCEDURE; LACTIC ACIDOSIS; LOW TEMPERATURE; METABOLIC ACIDOSIS; MITOCHONDRIAL GENETICS; MITOCHONDRIAL RESPIRATION; PREDICTION; PRIORITY JOURNAL; SKIN FIBROBLAST;

EID: 0037897337     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-003-0946-0     Document Type: Article

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