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Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and
A Tripatara1, D S Kerr, M M Lusk
1Department of Nutrition, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA.
Human Mutation
|January 1, 1996
Abstract:
Three novel mutations in the coding region of E1 alpha gene were found in three PDC-deficient male patients, including a missense mutation (M181V), a 3 bp deletion (AGA, corresponding to R282), and a 16 bp insertion (CAGTGGATCAAGTTTA), causing a frameshift starting with lysine 358 and resulting in decrease of both E1 subunits.