Report of a novel kindred with antithrombin heparin-binding site variant (47 Arg to His): demand for an automated progressive antithrombin assay to detect molecular variants with low thrombotic risk.
Rossi
Elena
E
Chiusolo
Patrizia
P
Za
Tommaso
T
Marietti
Sara
S
Ciminello
Angela
A
Leone
Giuseppe
G
De Stefano
Valerio
V
D000293:Adolescent; D000990:Antithrombin III / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D020152:Antithrombin III Deficiency / Q000097:blood / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D001331:Automation; D001665:Binding Sites / Q000235:genetics; D001780:Blood Coagulation Tests; D005260:Female; D020022:Genetic Predisposition to Disease; D006493:Heparin / Q000378:metabolism*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008970:Molecular Weight; D020125:Mutation, Missense; D010375:Pedigree; D018570:Risk Assessment; D012307:Risk Factors; D013927:Thrombosis / Q000235:genetics*
D000990:Antithrombin III; D006493:Heparin