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Journal Abstract Search

237 related items for PubMed ID: 7887409

  • 1. 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.
    Chun K, MacKay N, Petrova-Benedict R, Federico A, Fois A, Cole DE, Robertson E, Robinson BH.
    Am J Hum Genet; 1995 Mar; 56(3):558-69. PubMed ID: 7887409
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  • 2. Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.
    Chun K, MacKay N, Petrova-Benedict R, Robinson BH.
    Hum Mol Genet; 1993 Apr; 2(4):449-54. PubMed ID: 8504306
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  • 3. Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
    Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A.
    Hum Mutat; 2000 Apr; 15(3):209-19. PubMed ID: 10679936
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  • 8. Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency.
    Cardozo AK, De Meirleir L, Liebaers I, Lissens W.
    Pediatr Res; 2000 Dec; 48(6):748-53. PubMed ID: 11102541
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  • 10. Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
    Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, de Baulny HO, Barnerias C, Miné M, Marsac C, Saudubray JM, Brivet M.
    Mol Genet Metab; 2011 Dec; 104(4):507-16. PubMed ID: 21914562
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  • 11. Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit.
    De Meirleir L, Lissens W, Vamos E, Liebaers I.
    Hum Genet; 1992 Mar; 88(6):649-52. PubMed ID: 1551669
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  • 12. DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia.
    Matsuda J, Ito M, Naito E, Yokota I, Kuroda Y.
    J Inherit Metab Dis; 1995 Mar; 18(5):534-46. PubMed ID: 8598634
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  • 13. Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.
    Dahl HH, Brown GK, Brown RM, Hansen LL, Kerr DS, Wexler ID, Patel MS, De Meirleir L, Lissens W, Chun K.
    Hum Mutat; 1992 Mar; 1(2):97-102. PubMed ID: 1301207
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  • 14. Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy.
    De Meirleir L, Lissens W, Benelli C, Ponsot G, Desguerre I, Marsac C, Rodriguez D, Saudubray JM, Poggi F, Liebaers I.
    Pediatr Res; 1994 Dec; 36(6):707-12. PubMed ID: 7898978
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  • 15. Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.
    Chun K, MacKay N, Petrova-Benedict R, Robinson BH.
    Am J Hum Genet; 1991 Aug; 49(2):414-20. PubMed ID: 1907799
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