A G+3-to-T donor splice site mutation leads to skipping of exon 50 in von Willebrand factor mRNA.
Mertes
G
G
Institut für Experimentelle Hämatologie und Transfusionsmedizin, Universität Bonn, Federal Republic of Germany.
Ludwig
M
M
Finkelnburg
B
B
Krawczak
M
M
Schwaab
R
R
Brackmann
H H
HH
Olek
K
K
D001483:Base Sequence; D002478:Cells, Cultured; D017931:DNA Primers; D005091:Exons; D005260:Female; D006147:Guanine; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics*; D013941:Thymine; D014841:von Willebrand Factor / Q000235:genetics*
D017931:DNA Primers; D012333:RNA, Messenger; D014841:von Willebrand Factor; D006147:Guanine; D013941:Thymine