Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1 alpha gene.
Lissens
W
W
Department of Medical Genetics, University Hospital, Vrije Universiteit Brussel, Belgium.
Desguerre
I
I
Benelli
C
C
Marsac
C
C
Fouque
F
F
Haenggeli
C
C
Ponsot
G
G
Seneca
S
S
Liebaers
I
I
De Meirleir
L
L
D001482:Base Composition; D001483:Base Sequence; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000209:etiology / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D017384:Sequence Deletion
D011768:Pyruvate Dehydrogenase Complex