Identification of the novel signal peptide mutation, antithrombin-Siriraj causes type-I antithrombin deficiency in thai patients.
Chinthammitr
Yingyong
Y
Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands. Y.Y.Chinthammitr@lumc.nl
Chinchang
Worrawut
W
Ruchutrakool
Theera
T
Viprakasit
Vip
V
D000293:Adolescent; D000991:Antithrombins / Q000172:deficiency / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D021382:Protein Sorting Signals / Q000235:genetics*; D012307:Risk Factors; D013785:Thailand; D020246:Venous Thrombosis / Q000209:etiology / Q000235:genetics*
D000991:Antithrombins; D021382:Protein Sorting Signals