作者:
Sol,Schulman [1]
;
Emale,El-Darzi [2]
;
Mary Hc,Florido [3]
;
Max,Friesen [3]
;
Glenn,Merrill-Skoloff [2]
;
Marisa A,Brake [4]
;
Calvin R,Schuster [2]
;
Lin,Lin [2]
;
Randal J,Westrick [4]
;
Chad A,Cowan [3]
;
Robert,Flaumenhaft [2]
;
NIHR BioResource [5]
;
Willem H,Ouwehand [6]
;
Kathelijne,Peerlinck [6]
;
Kathleen,Freson [7]
;
Ernest,Turro [2]
;
Bruce,Furie
作者单位:
Division of Hemostasis and Thrombosis.;Division of Hematology and Oncology, and.
[1]
Division of Hemostasis and Thrombosis.
[2]
Division of Cardiovascular Medicine, Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA.;Harvard Stem Cell Institute, Boston, Massachusetts, USA.
[3]
Department of Biological Sciences, Oakland University, Rochester, Michigan, USA.
[4]
Department of Haematology, University of Cambridge, and.;NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.;Wellcome Sanger Institute, Cambridge, United Kingdom.
[5]
Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, Katholieke Universiteit Leuven, Leuven, Belgium.
[6]
NIHR BioResource, Cambridge University Hospitals (detailed in the Supplemental Acknowledgments, ).;Department of Haematology, University of Cambridge, and.;NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom.;Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge, United Kingdom.
[7]
主题词
动物(Animals);碱基序列(Base Sequence);血液凝集障碍, 遗传性(Blood Coagulation Disorders, Inherited);密码子, 无义(Codon, Nonsense);疾病模型, 动物(Disease Models, Animal);女(雌)性(Female);移码突变(Frameshift Mutation);单倍剂量不足(Haploinsufficiency);杂合子(Heterozygote);人类(Humans);诱导多能干细胞(Induced Pluripotent Stem Cells);男(雄)性(Male);小鼠(Mice);小鼠, 近交C57BL(Mice, Inbred C57BL);小鼠, 基因敲除(Mice, Knockout);肽链终止 , 翻译(Peptide Chain Termination, Translational);表型(Phenotype);凝血致活酶(Thromboplastin)
DOI
10.1172/JCI133780
PMID
32663190
发布时间
2024-09-22