Nonsense mutation Arg197stop in a Dutch family with type 1 hereditary antithrombin (AT) deficiency causing thrombophilia.
Michiels
J J
JJ
Department of Hematology, University Hospital Dijkzigt, Erasmus University Medical School Rotterdam, The Netherlands.
van der Luit
L
L
van Vliet
H H
HH
Jochmans
K
K
Lissens
W
W
D000328:Adult; D000990:Antithrombin III / Q000235:genetics*; D020152:Antithrombin III Deficiency; D003276:Contraceptives, Oral / Q000009:adverse effects; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009426:Netherlands; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D011249:Pregnancy Complications, Cardiovascular / Q000097:blood; D011655:Pulmonary Embolism / Q000097:blood / Q000235:genetics; D012008:Recurrence; D013924:Thrombophlebitis / Q000097:blood / Q000235:genetics*
D003276:Contraceptives, Oral; C094963:antithrombin III Arg197STOP; D000990:Antithrombin III