Factor VII deficiency: a double heterozygote of an Arg402Stop with a deletion of the C-terminal five amino acids and a Thr359Met.
Okamoto
Masataka
M
Katsuda
Itsuro
I
Ohshika
Yasuna
Y
Maruyama
Fumio
F
Ezaki
Kohji
K
Emi
Nobuhiko
N
Ichihara
Yoshikazu
Y
D000328:Adult; D018389:Codon, Nonsense; D005168:Factor VII Deficiency / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D017384:Sequence Deletion
D018389:Codon, Nonsense