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Academic Journal

A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.

  • Authors : Brown RM; Genetics Unit, Department of Biochemistry, University of Oxford, UK.; Head RA

Subjects: Amino Acid Substitution/Amino Acid Substitution/Amino Acid Substitution/*genetics ; Pyruvate Dehydrogenase (Lipoamide)/Pyruvate Dehydrogenase (Lipoamide)/Pyruvate Dehydrogenase (Lipoamide)/*genetics ; Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/*genetics

  • Source: Human mutation [Hum Mutat] 2003 Dec; Vol. 22 (6), pp. 496-7.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004

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Academic Journal

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

  • Authors : Lissens W; Center for Medical Genetics, University Hospital, Vrije Universiteit Brussel, Brussels, Belgium. ; De Meirleir L

Subjects: Pyruvate Dehydrogenase (Lipoamide)*; Pyruvate Dehydrogenase Complex/Pyruvate Dehydrogenase Complex/Pyruvate Dehydrogenase Complex/*genetics ; Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/*genetics

  • Source: Human mutation [Hum Mutat] 2000; Vol. 15 (3), pp. 209-19.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Print ISSN: 1059-7794 (Print)

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Academic Journal

Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity.

  • Authors : Otero LJ; Department of Biochemistry, University of Oxford, United Kingdom.; Brown RM

Subjects: Pyruvate Dehydrogenase (Lipoamide)*; Point Mutation/Point Mutation/Point Mutation/*genetics ; Pyruvate Dehydrogenase Complex/Pyruvate Dehydrogenase Complex/Pyruvate Dehydrogenase Complex/*genetics

  • Source: Human mutation [Hum Mutat] 1998; Vol. 12 (2), pp. 114-21.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Print ISSN: 1059-7794 (Print)

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Academic Journal

Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.

Subjects: Mutation* ; Pyruvate Dehydrogenase (Lipoamide)*; Pyruvate Dehydrogenase Complex/Pyruvate Dehydrogenase Complex/Pyruvate Dehydrogenase Complex/*genetics

  • Source: Human mutation [Hum Mutat] 1996; Vol. 7 (1), pp. 46-51.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Print ISSN: 1059-7794 (Print)

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Academic Journal

Sensitive and fast mutation detection by solid phase chemical cleavage.

Subjects: Genetic Techniques* ; Mutation*; DNA/DNA/DNA/*genetics

  • Source: Human mutation [Hum Mutat] 1996; Vol. 7 (3), pp. 256-63.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Print ISSN: 1059-7794 (Print)

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Academic Journal

A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiency.

  • Authors : Takakubo F; Murdoch Institute for Research Into Birth Defects, Royal Children's Hospital, Parkville, Melbourne, Victoria 3052, Australia.; Thorburn DR

Subjects: Pyruvate Dehydrogenase Complex/Pyruvate Dehydrogenase Complex/Pyruvate Dehydrogenase Complex/*genetics ; Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/Pyruvate Dehydrogenase Complex Deficiency Disease/*genetics; Female

  • Source: Human mutation [Hum Mutat] 1995; Vol. 6 (3), pp. 274-5.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Print ISSN: 1059-7794 (Print)

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Academic Journal

Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit.

  • Authors : Dahl HH; Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Parkville, Melbourne, Victoria, Australia.; Brown GK

Subjects: Genes*; Psychomotor Disorders/Psychomotor Disorders/Psychomotor Disorders/*genetics ; Pyruvate Dehydrogenase Complex/Pyruvate Dehydrogenase Complex/Pyruvate Dehydrogenase Complex/*genetics

  • Source: Human mutation [Hum Mutat] 1994; Vol. 3 (2), pp. 152-5.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Print ISSN: 1059-7794 (Print)

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Academic Journal

Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.

  • Authors : Dahl HH; Murdoch Institute for Research Into Birth Defects, Royal Children's Hospital, Parkville, Melbourne, Australia.; Brown GK

Subjects: Mutation* ; Polymorphism, Genetic* ; X Chromosome*

  • Source: Human mutation [Hum Mutat] 1992; Vol. 1 (2), pp. 97-102.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Print ISSN: 1059-7794 (Print)

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Academic Journal

A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.

  • Authors : Ridout CK; Genetics Unit, Department of Biochemistry, University of Oxford, UK.; Keighley P

Subjects: Codon, Nonsense* ; Enhancer Elements, Genetic*; Pyruvate Dehydrogenase (Lipoamide)/Pyruvate Dehydrogenase (Lipoamide)/Pyruvate Dehydrogenase (Lipoamide)/*genetics

  • Source: Human mutation [Hum Mutat] 2008 Mar; Vol. 29 (3), pp. 451.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004

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Academic Journal

A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.

  • Authors : Miné M; Centre de Recherches Thérapeutiques en Ophtalmologie, Faculté de Médecine Necker, Paris, France.; Chen JM

Subjects: Gene Deletion* ; Long Interspersed Nucleotide Elements* ; Mutagenesis, Insertional*

  • Source: Human mutation [Hum Mutat] 2007 Feb; Vol. 28 (2), pp. 137-42.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004

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  • 1-10 of  11 results for ""Pyruvate Dehydrogenase Complex Deficiency Disease""