First identification and expression of a type 2N von Willebrand disease mutation (E1078K) located in exon 25 of von Willebrand factor gene.
Hilbert
L
L
D'Oiron
R
R
Fressinaud
E
E
Meyer
D
D
Mazurier
C
C
D000328:Adult; D000818:Animals; D019556:COS Cells; D004305:Dose-Response Relationship, Drug; D005091:Exons; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D017434:Protein Structure, Tertiary; D014842:von Willebrand Diseases / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
D014841:von Willebrand Factor