Severe factor VII deficiency caused by a novel point mutation (Arg353Pro) combined with a rare Cys22Arg mutation.
Zhidong
Wang
W
Xiaojun
Huang
H
D000293:Adolescent; D001665:Binding Sites; D001777:Blood Coagulation / Q000235:genetics; D004252:DNA Mutational Analysis; D005167:Factor VII / Q000737:chemistry / Q000235:genetics*; D005168:Factor VII Deficiency / Q000097:blood / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D011487:Protein Conformation; D012720:Severity of Illness Index; D013925:Thromboplastin / Q000378:metabolism
D005167:Factor VII; D013925:Thromboplastin