Article
Molecular study of electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II.
European journal of clinical investigation - 1 Sept 2002
Purevjav E, Kimura M, Takusa Y, Ohura T, Tsuchiya M, Hara N, Fukao T, Yamaguchi S
Abstract excerpt
BACKGROUND: Electron transfer flavoprotein is a mitochondrial matrix protein composed of alpha- and beta-subunits (ETF alpha and ETF beta, respectively). This protein transfers electrons between several mitochondrial dehydrogenases and the main respiratory chain via ETF dehydrogenase (ETF-DH). Defects in ETF or ETF-DH cause glutaric acidemias type II (GAII). MATERIALS AND METHODS: We investigated the molecular...
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