A single cytosine deletion in exon 18 of the von Willebrand factor gene is the most common mutation in Swedish vWD type III patients.
Zhang
Z P
ZP
Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
Falk
G
G
Blombäck
M
M
Egberg
N
N
Anvret
M
M
D001483:Base Sequence; D003596:Cytosine; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D017384:Sequence Deletion; D013548:Sweden; D014841:von Willebrand Factor / Q000235:genetics*
D009838:Oligodeoxyribonucleotides; D014841:von Willebrand Factor; D003596:Cytosine