Galactosemia caused by a point mutation that activates cryptic donor splice site in the galactose-1-phosphate uridyltransferase gene.
Wadelius
C
C
Department of Pediatrics, University Hospital, Uppsala, Sweden.
Lagerkvist
A
A
Molin
A K
AK
Larsson
A
A
von Döbeln
U
U
Pettersson
U
U
D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D005091:Exons; D005693:Galactosemias / Q000201:enzymology* / Q000235:genetics*; D015971:Gene Expression Regulation, Enzymologic; D006801:Humans; D007223:Infant; D007438:Introns; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
D009838:Oligodeoxyribonucleotides; D012333:RNA, Messenger; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase