Haut, Sandrine

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. [electronic resource] - Human genetics Jul 2003 - 118-22 p. digital

Publication Type: Case Reports; Journal Article

0340-6717

10.1007/s00439-003-0946-0 doi


Acidosis, Lactic--genetics
Amino Acid Sequence
Carrier Proteins--genetics
Cold Temperature
Cytochrome b Group--analysis
Electron Transport Complex III--deficiency
Female
Fibroblasts--enzymology
Gene Deletion
Hepatocytes--enzymology
Humans
Hypoglycemia--genetics
Infant
Lymphocytes--enzymology
Mitochondria--enzymology
Molecular Sequence Data
Skin--pathology