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Journal Abstract Search

256 related items for PubMed ID: 8312380

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  • 3. Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.
    Nobukuni Y, Mitsubuchi H, Hayashida Y, Ohta K, Indo Y, Ichiba Y, Endo F, Matsuda I.
    Biochim Biophys Acta; 1993 Nov 25; 1225(1):64-70. PubMed ID: 8161368
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  • 8. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
    Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y.
    J Hum Genet; 1998 Nov 25; 43(2):91-100. PubMed ID: 9621512
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  • 10. 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 25; 49(2):429-34. PubMed ID: 1867199
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  • 14. E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.
    Chuang JL, Cox RP, Chuang DT.
    J Clin Invest; 1997 Aug 01; 100(3):736-44. PubMed ID: 9239422
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