Cloning of a defective gene encoding the pyruvate dehydrogenase E1 alpha subunit from a patient with its deficiency.
Endo
H
H
Department of Biochemistry, Jichi Medical School, Tochigi, Japan.
Miyabayashi
S
S
Hasegawa
K
K
Narisawa
K
K
Tada
K
K
Kagawa
Y
Y
Ohta
S
S
D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002872:Chromosome Deletion; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000235:genetics*; D015323:Pyruvate Metabolism, Inborn Errors / Q000235:genetics*
D011768:Pyruvate Dehydrogenase Complex; D004247:DNA