Gene discovery in methylmalonic aciduria and homocystinuria.
Thiele
J
J
Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada, V5Z 4H4. jthiele@cmmt.ubc.ca
Van Raamsdonk
J M
JM
D002352:Carrier Proteins / Q000737:chemistry / Q000235:genetics*; D002460:Cell Line; D006712:Homocystinuria / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D008764:Methylmalonic Acid / Q000652:urine*; D008954:Models, Biological; D009154:Mutation; D010088:Oxidoreductases; D017434:Protein Structure, Tertiary; D017386:Sequence Homology, Amino Acid; D014805:Vitamin B 12 / Q000378:metabolism
D002352:Carrier Proteins; D008764:Methylmalonic Acid; C508359:MMACHC protein, human; D010088:Oxidoreductases; D014805:Vitamin B 12