Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation-dependent probe amplification (MLPA).
Lee
S-T
ST
Kim
H-J
HJ
Kim
D-K
DK
Schuit
R J L
RJ
Kim
S-H
SH
D000328:Adult; D000990:Antithrombin III / Q000235:genetics*; D020152:Antithrombin III Deficiency / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D005091:Exons / Q000235:genetics; D005188:False Negative Reactions; D006801:Humans; D007723:Korea / Q000453:epidemiology; D008297:Male; D008642:Mesenteric Veins; D008875:Middle Aged; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D011655:Pulmonary Embolism / Q000209:etiology; D012680:Sensitivity and Specificity; D017384:Sequence Deletion; D019851:Thrombophilia / Q000150:complications / Q000235:genetics; D020246:Venous Thrombosis / Q000209:etiology
D000990:Antithrombin III