A four-nucleotide insertion at the E1 alpha gene in a patient with pyruvate dehydrogenase deficiency.
Endo
H
H
Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan.
Miyabayashi
S
S
Tada
K
K
Narisawa
K
K
D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000737:chemistry* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease; D014960:X Chromosome
D011768:Pyruvate Dehydrogenase Complex; D004247:DNA