Lack of mutations in the biotin-binding region of the pyruvate carboxylase (PC) gene in a family with partial PC deficiency.
Higgins
J J
JJ
Clinical Neurogenetics Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA.
Ide
S E
SE
Oghalai
J S
JS
Polymeropoulos
M H
MH
D001665:Binding Sites; D001710:Biotin / Q000378:metabolism*; D002648:Child; D005260:Female; D006801:Humans; D019344:Lactic Acid / Q000097:blood; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011485:Protein Binding / Q000235:genetics; D011766:Pyruvate Carboxylase / Q000097:blood / Q000235:genetics* / Q000378:metabolism*; D015324:Pyruvate Carboxylase Deficiency Disease / Q000201:enzymology / Q000235:genetics*; D012129:Respiratory Function Tests
D019344:Lactic Acid; D001710:Biotin; D011766:Pyruvate Carboxylase