Chuang J.L.,1997
Chuang J.L., Cox R.P., Chuang D.T. E2 transacylase-defi- cient (ytpe ll) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype. - J.Clin.Invest., 1997, v, 100, p. 736-744.
