Homozygous nonsense mutation (Cys72-->stop) in the human F7 gene: a not life-threatening mutation despite the absence of circulating factor VII.
Chafa
O
O
Fischer
A-M
AM
Reghis
A
A
Tapon-Bretaudiere
J
J
D000328:Adult; D003029:Coagulants / Q000494:pharmacology; D018389:Codon, Nonsense; D018388:Codon, Terminator; D003545:Cysteine / Q000235:genetics*; D005167:Factor VII / Q000096:biosynthesis* / Q000235:genetics*; D005168:Factor VII Deficiency / Q000097:blood / Q000235:genetics; D005192:Family Health; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D010649:Phenylalanine / Q000737:chemistry / Q000235:genetics; D012306:Risk
D003029:Coagulants; D018389:Codon, Nonsense; D018388:Codon, Terminator; D010649:Phenylalanine; D005167:Factor VII; D003545:Cysteine