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