| 1 | BCKDHA, BCKDHB, DBT, MSUD1A, MSUD1B, MSUD2
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| Mutational spectrum of maple syrup urine disease in Spain.
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| Rodriguez-Pombo P, Navarrete R, Merinero B, Gomez-Puertas P, Ugarte M.
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| Hum Mutat 27(7):715. 2006
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| 2 | BCKDHA, BCKDHB, DBT, MSUD1A, MSUD1B, MSUD2
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| Lessons from genetic disorders of branched-chain amino acid metabolism.
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| Chuang DT, Chuang JL, Wynn RM.
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| J Nutr 136(1 Suppl):243S-9S. Review. 2006
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| 3 | BCKDHB
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| Two new mutations in the human E1 beta subunit of branched chain alpha-ketoacid dehydrogenase associated with maple syrup urine disease.
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| McConnell BB, Burkholder B, Danner DJ.
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| Biochim Biophys Acta 1361(3):263-71. 1997
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| 4 | BCKDHB
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| Maple syrup urine disease : the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences.
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| Chuang JL, et al.
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| Am J Hum Genet 58 : 1373-1377. 1996
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| 5 | BCKDHA, BCKDHB, MSUD1A, MSUD1B
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| 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.
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| Nobukuni Y, et al.
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| Biochim Biophys Acta 1225 : 64-70. 1993
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| 6 | BCKDHB, MSUD2
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| Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex : the E1-beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31.
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| Zneimer SM, et al.
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| Genomics 10 : 740-747. 1991
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| 7 | BCKDHB
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| 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.
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| Nobukuni Y, et al.
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| J Clin Invest 87 : 1862-1866. 1991
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| 8 | BCKDHB
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| Structural organization and chromosomal localization of the gene for the E1-beta subunit of human branched chain alpha-keto acid dehydrogenase.
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| Mitsubuchi H, et al.
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| J Biol Chem 266 : 14686-14691. 1991
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| 9 | BCKDHB, DBT
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| Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31.
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| Zneimer SM, Lau KS, Eddy RL, Shows TB, Chuang JL, Chuang DT, Cox RP.
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| Genomics 10(3):740-7. 1991
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| 10 | BCKDHB
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| Maple syrup urine disease. Complete primary structure of the E1beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease.
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| Nobukuni Y, et al.
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| J Clin Invest 86 : 242-247. 1990
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