The D2194G mutation is responsible for increased levels of FV1 in carriers of the factor V R2 haplotype.
Yamazaki
Tomio
T
Okada
Hiromi
H
Balling
Kristoffer W
KW
Dahlbäck
Björn
B
Nicolaes
Gerry A F
GA
D000818:Animals; D020126:Brefeldin A / Q000494:pharmacology; D019556:COS Cells; D002522:Chlorocebus aethiops; D004721:Endoplasmic Reticulum / Q000187:drug effects; D005165:Factor V / Q000235:genetics / Q000378:metabolism*; D006031:Glycosylation / Q000187:drug effects; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D009154:Mutation / Q000235:genetics*; D017510:Protein Folding; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism*; D021381:Protein Transport / Q000187:drug effects / Q000235:genetics; D019076:Transgenes / Q000235:genetics
D020033:Protein Isoforms; D020126:Brefeldin A; D005165:Factor V