title: Cys482Trp missense mutation in the coagulation factor XI gene (F11) in a Korean patient with factor XI deficiency.
authors: Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. ; Department of Laboratory Medicine, National Health Insurance Service Ilsan Hospital, Goyang, Korea.
authors: Seung Jun
authors: SJ
authors: Choi
authors: Department of Laboratory Medicine, Yonsei University Wonju College of Medicine, Wonju, Korea.
authors: Juwon
authors: J
authors: Kim
authors: Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
authors: Kyung-A
authors: KA
authors: Lee
authors: Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
authors: Jong Rak
authors: JR
authors: Choi
authors: Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. ; Department of Laboratory Medicine, National Health Insurance Service Ilsan Hospital, Goyang, Korea.
authors: Jongha
authors: J
authors: Yoo
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002648:Child; D005091:Exons; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010314:Partial Thromboplastin Time; D010375:Pedigree; D056910:Republic of Korea; D017422:Sequence Analysis, DNA
chemical_list: D005172:Factor XI