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.
J L Chuang, … , R P Cox, D T Chuang
J L Chuang, … , R P Cox, D T Chuang
Published August 1, 1997
Citation Information: J Clin Invest. 1997;100(3):736-744. https://doi.org/10.1172/JCI119586.
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