The First Case of Congenital Prekallikrein Deficiency in Korea With a Novel Pathogenic Variant (c.1198G>T)

참고문헌 (10)

1. Girolami A, "Congenital prekallikrein deficiency", Expert Rev Hematol, 3, pp.685~695 (2010)
2. Chng WJ, "Causes of isolated prolonged activated partial thromboplastin time in an acute care general hospital", Singapore Med J, 46, pp.450~456 (2005)
3. Asmis LM, "Prekallikrein deficiency : the characteristic normalization of the severely prolonged aPTT following increased preincubation time is due to autoactivation of factor XII", Thromb Res, 105, pp.463~470 (2002)
4. Yu H, "Genomic structure of the human plasma prekallikrein gene, identification of allelic variants, and analysis in end-stage renal disease", Genomics, 69, pp.225~234 (2000)
5. Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
6. Shigekiyo T, "Prekallikrein(PK)Tokushima : PK deficiency caused by a Gly401-->Glu mutation", J Thromb Haemost, 1, pp.1314~1316 (2003)
7. Girolami A, "A structure-function analysis in patients with prekallikrein deficiency", Hematology, 23, pp.346~350 (2018)
8. Girolami A CE, "Critical analysis of the patients with congenital prekallikrein deficiency and a"purported"bleeding tendency", J Mol Genet Med, 1, pp.9~ (2017)
9. Girolami A, "Prevalence of hypertension and its complications in congenital prekallikrein deficiency : analysis of all reported cases and clinical significance", Blood Coagul Fibrinolysis, 26, pp.560~563 (2015)
10. Girolami A, "Thrombotic events in patients with congenital prekallikrein deficiency : a critical evaluation of all reported cases", Acta Haematol, 123, pp.210~214 (2010)

관련 논문AI추천