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    Hum Mutat. 1996;8(2):180-2.

    Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS-->TVDQS).

    Tripatara A, Kerr DS, Lusk MM, Kolli M, Tan J, Patel MS.

    Department of Nutrition, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA.

    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.

    PMID: 8844217 [PubMed - indexed for MEDLINE]

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