Novel mutation (R263X) of the E1α subunit in pyruvate dehydrogenase complex deficiency.
Sato
Satoshi
S
Department of Pediatrics, Tokyo Medical University, Tokyo, Japan. sato115@tokyo-med.ac.jp
Ioi
Hiroaki
H
Kashiwagi
Yasuyo
Y
Kawashima
Hisashi
H
Miyajima
Tasuku
T
Naito
Etsuo
E
Hoshika
Akinori
A
D000328:Adult; D018389:Codon, Nonsense; D005260:Female; D006801:Humans; D011247:Pregnancy; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000235:genetics*
D018389:Codon, Nonsense; D011768:Pyruvate Dehydrogenase Complex; C453599:pyruvate dehydrogenase multienzyme complex E1