A single base-pair deletion in the protein C gene causing recurrent thromboembolism.
Grundy
C
C
Molecular Genetics Section, Thrombosis Research Institute, Chelsea, London, UK.
Plendl
H
H
Grote
W
W
Zoll
B
B
Kakkar
V V
VV
Cooper
D N
DN
D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000302:isolation & purification; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics* / Q000502:physiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D015345:Oligonucleotide Probes / Q000138:chemical synthesis; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency; D013923:Thromboembolism / Q000235:genetics*
D015345:Oligonucleotide Probes; D011486:Protein C; D004247:DNA