Three new mutations of the pyruvate dehydrogenase ...[Hum Mutat. 1996]

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

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]

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.
Am J Hum Genet. 1995 Mar; 56(3):558-69.

[Am J Hum Genet. 1995]
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.
Hum Mol Genet. 1993 Apr; 2(4):449-54.

[Hum Mol Genet. 1993]
Characterization of point mutations in patients with pyruvate dehydrogenase deficiency: role of methionine-181, proline-188, and arginine-349 in the alpha subunit.
Arch Biochem Biophys. 1999 Jul 1; 367(1):39-50.

[Arch Biochem Biophys. 1999]
ReviewA novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
Hum Mutat. 2005 Mar; 25(3):323-4.

[Hum Mutat. 2005]
ReviewMutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
Hum Mutat. 2000; 15(3):209-19.

[Hum Mutat. 2000]
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Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V),...Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS-->TVDQS).

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

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