Molecular diagnosis of maple syrup urine disease: screening and identification of gene mutations in the branched-chain alpha-ketoacid dehydrogenase multienzyme complex.
Nobukuni
Y
Y
Department of Pediatrics, Kumamoto University Medical School, Japan.
Mitsubuchi
H
H
Ohta
K
K
Akaboshi
I
I
Indo
Y
Y
Endo
F
F
Matsuda
I
I
D001402:B-Lymphocytes / Q000378:metabolism; D002459:Cell Fusion; D002460:Cell Line; D004247:DNA / Q000378:metabolism; D015971:Gene Expression Regulation, Enzymologic; D005816:Genetic Complementation Test; D005820:Genetic Testing; D006801:Humans; D008375:Maple Syrup Urine Disease / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D016133:Polymerase Chain Reaction; D011494:Protein Kinases / Q000235:genetics / Q000378:metabolism*
D004247:DNA; D011494:Protein Kinases; C035627:(3-methyl-2-oxobutanoate dehydrogenase (lipoamide)) kinase