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Article

Factor XII Osaka: abnormal factor XII with partially defective prekallikrein cleavage activity.

Thrombosis and haemostasis - 1 Mar 2011

Iijima Kenji, Arakawa Yuya, Sugahara Yuya, Matsushita Michiko, Moriguchi Yuki, Shimohiro Hisashi, Nakagawa Mayumi

Abstract excerpt

A healthy Japanese male had reduced factor XII (FXII) activity (35%) in contrast to normal antigen levels (81%). The F12 of this proband had a 9775G to C mutation in exon 10 and an 11276G to A mutation in exon 13 that resulted in two amino acid substitutions of Ala324Pro (GCG→CCG) in the proline-rich connecting region and Gly531Glu (GGG→GAG) near the active Ser544 in the catalytic domain. His father had the...

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PMID: 21264442
DOI: 10.1160/TH10-02-0123

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GCG

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