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Novel mutation (R263X) of the E1α subunit in pyruvate dehydrogenase complex deficiency
Author(s) -
Sato Satoshi,
Ioi Hiroaki,
Kashiwagi Yasuyo,
Kawashima Hisashi,
Miyajima Tasuku,
Naito Etsuo,
Hoshika Akinori
Publication year - 2010
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.2010.03112.x
Subject(s) - pyruvate dehydrogenase complex , medicine , lactic acidosis , citric acid cycle , mitochondrial disease , endocrinology , biochemistry , metabolism , biology , enzyme , gene , mitochondrial dna

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