A novel alanine or threonine 789 to proline mutation causing type 2N von Willebrand's disease when inherited homozygously or heterozygously with arginine 854 to glutamine mutation.
Enayat
M S
MS
Guilliatt
A M
AM
Short
P E
PE
Rastegar-Lari
G
G
Jazebi
M
M
Ravonbod
S
S
Ala
F
F
Chapman
O G
OG
Hill
F G H
FG
D024361:Amino Acids, Basic / Q000235:genetics*; D000598:Amino Acids, Cyclic / Q000235:genetics*; D044466:Asian People; D005091:Exons; D005169:Factor VIII / Q000032:analysis; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D017422:Sequence Analysis, DNA; D006113:United Kingdom; D056728:von Willebrand Disease, Type 2 / Q000235:genetics*; D014841:von Willebrand Factor / Q000032:analysis / Q000235:genetics*
D024361:Amino Acids, Basic; D000598:Amino Acids, Cyclic; D014841:von Willebrand Factor; D005169:Factor VIII