Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay.
Manuela
M
Platè
Stefano
S
Duga
Luciano
L
Baronciani
Silvia
S
La Marca
Valentina
V
Rubini
Pier Mannuccio
PM
Mannucci
Augusto B
AB
Federici
Rosanna
R
Asselta
D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D020871:RNA Stability / Q000235:genetics*; D014842:von Willebrand Diseases / Q000175:diagnosis / Q000235:genetics; D014841:von Willebrand Factor / Q000235:genetics*
D018389:Codon, Nonsense; D014841:von Willebrand Factor