Publication:

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L (2002)

Author(s): Taylor RW; Hutton JL; Turnbull DM; Visapaa I; Fellman V; Vesa J; Dasvarma A; Kumar V; Payne GS; Makarow M; Van Coster R; Suomalainen A; Peltonen L

      • Date: 01-10-2002
      • Journal: American Journal of Human Genetics
      • Volume: 71
      • Issue: 4
      • Pages: 863-876
      • Publisher: Cell Press
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: CYTOCHROME-B GENE MITOCHONDRIAL RESPIRATORY-CHAIN COMPLEX-III DEFICIENCY SACCHAROMYCES-CEREVISIAE LACTIC-ACIDOSIS PROTEIN DNA IDENTIFICATION EXPRESSION DISEASE

      Staff

      Professor Robert Taylor
      Professor of Mitochondrial Pathology