Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single ba...

Por Mitsubuchi, H, Nobukuni, Y, Akaboshi, I, Indo, Y, Endo, F, Matsuda, I
Publicado em 1991

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...

Por Nobukuni, Y, Mitsubuchi, H, Endo, F, Akaboshi, I, Asaka, J, Matsuda, I
Publicado em 1990

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 enc...

Por Nobukuni, Y, Mitsubuchi, H, Akaboshi, I, Indo, Y, Endo, F, Yoshioka, A, Matsuda, I
Publicado em 1991