Scientists explain genetic disease first discovered in Quebec 24 years ago
Thursday, January 22, 2009 - 16:28
in Biology & Nature
Scientists at the MUHC and McGill University have identified a gene essential for the uptake of vitamin B12 in human cells. The discovery of this gene finally completes a 24 year-old hunt for the cause of an incredibly rare genetic disorder called, cblF combined homocystinuria and methylmalonic aciduria (cblF-Hcy-MMA), first documented in a Quebec infant in 1985. The work, which was funded in part by the CIHR and involved collaboration among researchers in Canada, Germany, Switzerland and France, was published online in Nature Genetics this week...