논문KCI 등재
Genetic Confirmation of Congenital Factor V Deficiency in Korean Patients
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2016.03|Annals of Laboratory Medicine|제36권 제2호|pp. 182-184
2
조회
0
다운로드
1
인용
0
참고문헌
주제분류병리학
참고문헌 (10)
- Liu HC, "Asp68His mutation in the A1 domain of human factor V causes impaired secretion and ineffective translocation", Haemophilia, 20, pp.e318~e326 (2014)
- Huang DD, "Analysis of phenotype and genotype in four Chinese pedigrees with inherited coagulation factor V deficiency", Zhonghua Xue Ye Xue Za Zhi, 31, pp.149~153 (2010)
- Song J, "A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family", Blood Coagul Fibrinolysis, 20, pp.150~156 (2009)
- Cao LJ, "Gene analysis of five inherited factor V deficiency cases", Zhonghua Xue Ye Xue Za Zhi, 29, pp.145~148 (2008)
- Thalji N, "Parahemophilia: new insights into factor v deficiency", Semin Thromb Hemost, 39, pp.607~612 (2013)
- "2013 Annual Report of Korea Hemophilia Foundation"[URL]
- Song JW, "A case of congenital factor V deficiency", J Korean Med Sci, 2, pp.179~182 (1987)
- Peyvandi F, "Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders", J Thromb Haemost, 10, pp.615~621 (2012)
- James P, "Rare bleeding disorders-bleeding assessment tools, laboratory aspects and phenotype and therapy of FXI deficiency", Haemophilia, 20(S4), pp.S71~S75 (2014)
- Duckers C, "Residual platelet factor V ensures thrombin generation in patients with severe congenital factor V deficiency and mild bleeding symptoms", Blood, 115, pp.879~886 (2010)
관련 논문AI추천
F5 유전자에서 새로운 변이를 포함한 복합 이형 접합 변이 1예 보고Kim Namhee, Kim Sung-Hyun, Park Suji대한진단검사의학회 · Laboratory Medicine Online2024 · 제14권 제2호VWF 유전자 R816W 동형접합자 돌연변이가 확인된 네팔인 여성 Type 2N von Willebrand 병 1예김희진, 남은미, 이숙영, 이순남, 홍기숙대한진단검사의학회 · Annals of Laboratory Medicine2008 · 제28권 제4호A Novel Missense Mutation Asp506Gly in Exon 13 of the F11 Gene in an Asymptomatic Korean Woman with Mild Factor XI Deficiency김화영, 김희진, 이종호, 조희순, 현명수대한진단검사의학회 · Annals of Laboratory Medicine2011 · 제31권 제4호The First Case of Congenital Prekallikrein Deficiency in Korea With a Novel Pathogenic Variant (c.1198G>T)구자윤, 김현경, 류소희, 한두희, 홍경택대한진단검사의학회 · Annals of Laboratory Medicine2019 · 제39권 제2호Thrombocythemia 1 With THPO Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in KoreaDo-Hoon Kim, Jung Sook Ha, Nani Jung, Ye Jee Shim대한진단검사의학회 · Annals of Laboratory Medicine2020 · 제40권 제4호First Identifcation of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy김승민, 박형준, 신하영, 이정환, 이지현, 최영철대한신경과학회 · Journal of Clinical Neurology2016 · 제12권 제1호
이 간행물의 다른 논문 (20건)
Systematic Classification of Mixed-Lineage Leukemia Fusion Partners Predicts Additional Cancer PathwaysRolf Marschalekpp. 85-100Clinicopathological Implications of Mitochondrial Genome Alterations in Pediatric Acute Myeloid Leukemia신명근, 김혜란, 이준형, 김유나, 백희조, 국훈, 강민구, Michael Szardeningspp. 101-110Synergistic Anti-bacterial Effects of Phellinus baumii Ethyl Acetate Extracts and β-Lactam Antimicrobial Agents Against Methicillin-Resistant Staphylococcus aureus신경섭, 임영훈, 윤봉식, 홍승복, 이만휘, 송형근pp. 111-116Direct Identification and Antimicrobial Susceptibility Testing of Bacteria From Positive Blood Culture Bottles by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry and the Vitek 2 System박강균, 박동진, 한경자, 박연준, 조성진pp. 117-123In Vitro Interactions of Antibiotic Combinations of Colistin, Tigecycline, and Doripenem Against Extensively Drug-Resistant and Multidrug-Resistant Acinetobacter baumannii문대수, 박균철, 최지애, 장숙진, 강성호, 김춘미, 박건, 최인선, 정석훈pp. 124-130
