A novel factor V null mutation detected in a thrombophilic patient with pseudo-homozygous APC resistance and in an asymptomatic unrelated subject.
Lunghi
B
B
Castoldi
E
E
Mingozzi
F
F
Bernardi
F
F
Castaman
G
G
D000328:Adult; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics*; D005260:Female; D006239:Haplotypes / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D011486:Protein C / Q000378:metabolism*; D019851:Thrombophilia / Q000209:etiology / Q000235:genetics*; D013924:Thrombophlebitis / Q000209:etiology / Q000235:genetics
D003062:Codon; D011486:Protein C; C095381:factor V Leiden; D005165:Factor V