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Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease.

A defect in the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase (BCKDH) complex is one cause of maple syrup urine disease (MSUD). In an attempt to elucidate the molecular basis of MSUD, we isolated and characterized a 1.35 kbp cDNA clone encoding the entire precursor of the E1 bet...

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Библиографические подробности
Главные авторы: Nobukuni, Y, Mitsubuchi, H, Endo, F, Akaboshi, I, Asaka, J, Matsuda, I
Формат: Artigo
Язык:Inglês
Опубликовано: 1990
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC296713/
https://ncbi.nlm.nih.gov/pubmed/2365818
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