Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene.
Naito
E
E
Department of Pediatrics, School of Medicine, University of Tokushima, Japan.
Ito
M
M
Yokota
I
I
Matsuda
J
J
Yara
A
A
Kuroda
Y
Y
D000595:Amino Acid Sequence; D001483:Base Sequence; D016384:Consensus Sequence; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D005796:Genes; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000235:genetics*
D011768:Pyruvate Dehydrogenase Complex