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
- URL: http://dx.doi.org/10.1086/342773
- DOI: 10.1086/342773
- ISSN (electronic): 1537-6605
Keywords: CYTOCHROME-B GENE MITOCHONDRIAL RESPIRATORY-CHAIN COMPLEX-III DEFICIENCY SACCHAROMYCES-CEREVISIAE LACTIC-ACIDOSIS PROTEIN DNA IDENTIFICATION EXPRESSION DISEASE
|
Professor Robert Taylor
|
|
|
Professor Doug Turnbull
|
|
