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Journal Abstract Search

196 related items for PubMed ID: 1867199

  • 1. Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.
    Fisher CR, Fisher CW, Chuang DT, Cox RP.
    Am J Hum Genet; 1991 Aug; 49(2):429-34. PubMed ID: 1867199
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  • 4. Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification.
    Mitsubuchi H, Matsuda I, Nobukuni Y, Heidenreich R, Indo Y, Endo F, Mallee J, Segal S.
    J Inherit Metab Dis; 1992 Aug; 15(2):181-7. PubMed ID: 1356170
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  • 5. Molecular defects in the E1 alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex that cause maple syrup urine disease.
    Zhang B, Zhao Y, Harris RA, Crabb DW.
    Mol Biol Med; 1991 Feb; 8(1):39-47. PubMed ID: 1943689
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  • 7. A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients.
    Matsuda I, Nobukuni Y, Mitsubuchi H, Indo Y, Endo F, Asaka J, Harada A.
    Biochem Biophys Res Commun; 1990 Oct 30; 172(2):646-51. PubMed ID: 2241958
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  • 11. Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease.
    Nobukuni Y, Mitsubuchi H, Akaboshi I, Indo Y, Endo F, Yoshioka A, Matsuda I.
    J Clin Invest; 1991 May 30; 87(5):1862-6. PubMed ID: 2022752
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  • 12. cDNA cloning of the E1 alpha subunit of the branched-chain alpha-keto acid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease.
    Zhang B, Kuntz MJ, Goodwin GW, Edenberg HJ, Crabb DW, Harris RA.
    Ann N Y Acad Sci; 1989 May 30; 573():130-6. PubMed ID: 2634344
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  • 13. Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease.
    Hayashida Y, Mitsubuchi H, Indo Y, Ohta K, Endo F, Wada Y, Matsuda I.
    Biochim Biophys Acta; 1994 Feb 22; 1225(3):317-25. PubMed ID: 8312380
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  • 19. Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex.
    Dariush N, Fisher CW, Cox RP, Chuang DT.
    FEBS Lett; 1991 Jun 17; 284(1):34-8. PubMed ID: 2060625
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  • 20. Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex.
    Chuang DT, Fisher CW, Lau KS, Griffin TA, Wynn RM, Cox RP.
    Mol Biol Med; 1991 Feb 17; 8(1):49-63. PubMed ID: 1943690
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