Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences.
Chuang
J L
JL
Cox
R P
RP
Chuang
D T
DT
D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D018076:DNA, Complementary; D005091:Exons; D005260:Female; D015723:Gene Library; D006801:Humans; D007438:Introns; D007658:Ketone Oxidoreductases / Q000096:biosynthesis / Q000235:genetics*; D008375:Maple Syrup Urine Disease / Q000235:genetics*; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes / Q000096:biosynthesis / Q000235:genetics*; D010920:Placenta / Q000201:enzymology; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D014176:Protein Biosynthesis; D012333:RNA, Messenger / Q000096:biosynthesis
D018076:DNA, Complementary; D009097:Multienzyme Complexes; D012333:RNA, Messenger; D007658:Ketone Oxidoreductases; D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)