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Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: Multiple-exon skipping as a secondary effect of the mutations

Charles W. Fisher, Carolyn R. Fisher, Jacinta L. Chuang, Kim S. Lau, David T. Chuang, Rody P. Cox

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Medicine & Life Sciences