Molecular characterization of coagulation factor XII deficiency in a Japanese family

• Published in: Thrombosis and haemostasis Vol. 90; no. 1; p. 59
• Main Authors: Wada, Hideo, Nishioka, Junji, Kasai, Yasunari, Kato-Nakazawa, Keiko, Abe, Yasunori, Morishita, Yoshitaka, Nakatani, Kaname, Nobori, Tsutomu
• Format: Journal Article
• Language: English
• Published: Germany 01.07.2003
• Subjects: Amino Acid Substitution; Catalytic Domain - genetics; Cell Line; Exons - genetics; Factor XII - chemistry; Factor XII - genetics; Factor XII - secretion; Factor XII Deficiency - genetics; Female; Humans; Japan; Kidney; Male; Middle Aged; Mutation, Missense; Protein Biosynthesis; Protein Folding; Recombinant Fusion Proteins - chemistry; Recombinant Fusion Proteins - secretion; Japan

We report the identification in a Japanese family of a novel homozygous W486C mutation in the protease domain of coagulation factor XII (FXII), which was associated with the reduction of plasma FXII activity and antigen level to less than 5% of normal. Sequences of each exon for FXII gene was analys...