High frequency of premature termination mutations in the factor V gene: three factor V deficiency case reports and a mutation review.
Schrijver
Iris
I
Department of Pathology, Stanford University School of Medicine, Stanford, California, USA. iris.schrijver@medcenter.stanford.edu
Hong
Debbie W
DW
Mandle
Lisa
L
Jones
Carol D
CD
DiMichele
Donna
D
Monahan
Paul E
PE
Zehnder
James L
JL
D002675:Child, Preschool; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics*; D005166:Factor V Deficiency / Q000235:genetics*; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D005787:Gene Frequency; D006470:Hemorrhage / Q000235:genetics; D006720:Homozygote; D006801:Humans
D018389:Codon, Nonsense; D005165:Factor V