The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura (original) (raw)
ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura
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Human Mutation, 2010
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Immune and Hereditary Thrombotic Thrombocytopenic Purpura: Can ADAMTS13 Deficiency Alone Explain the Different Clinical Phenotypes?
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HAN-MOU TSAI
Blood, 2002
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Journal of Thrombosis and Haemostasis, 2006
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Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura
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Nature, 2001
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Kidney International, 2004
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Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13
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Blood, 2004
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A novel homozygous missense ADAMTS13 mutation Y658C in a patient with recurrent thrombotic thrombocytopenic purpura
/간호학과 이선희
Annals of clinical and laboratory science, 2011
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Thrombotic Thrombocytopenic Purpura: A Thrombotic Disorder Caused by ADAMTS13 Deficiency
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Hematology/Oncology Clinics of North America, 2007
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A novel homozygous frameshift mutation in Exon 7 of the ADAMTS13 gene in a patient with congenital thrombotic thrombocytopenic purpura from India: a case report
Bipin Kulkarni
Transfusion, 2017
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ADAMTS13 gene; a novel splicing site mutation in a case with thrombotic thrombocytopenic purpura
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Role of ADAMTS13 in the pathogenesis, diagnosis, and treatment of thrombotic thrombocytopenic purpura
Bernhard Lämmle
Hematology-American Society Hematology Education Program, 2012
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Complete deficiency in ADAMTS13 is prothrombotic, but it alone is not sufficient to cause thrombotic thrombocytopenic purpura
Toshiyuki Miyata
Blood, 2006
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Deficiency of ADAMTS13 causes thrombotic thrombocytopenic purpura. Editorial
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Arteriosclerosis Thrombosis and Vascular Biology, 2003
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Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura
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Journal of Thrombosis and Haemostasis, 2008
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Deficiency of ADAMTS13 Causes Thrombotic Thrombocytopenic Purpura
HAN-MOU TSAI
2010
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Congenital Thrombotic Thrombocytopenic Purpura With a Novel ADAMTS13 Gene Mutation
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ADAMTS13 phenotype in plasma from normal individuals and patients with thrombotic thrombocytopenic purpura
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European Journal of Pediatrics, 2006
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A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13
Johanna Kremer
Annals of Hematology, 2008
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ADAMTS13 Secretion and Residual Activity among Patients with Congenital Thrombotic Thrombocytopenic Purpura with and without Renal Impairment
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Clinical journal of the American Society of Nephrology : CJASN, 2015
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Diagnostic relevance of ADAMTS13 activity: Evaluation of 28 patients with thrombotic thrombocytopenic purpura - hemolytic uremic syndrome clinical diagnosis
Dragica Vucelić, Dragana Jevtic
Srpski arhiv za celokupno lekarstvo, 2013
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Gain-of-function ADAMTS13 variants that are resistant to autoantibodies against ADAMTS13 in patients with acquired thrombotic thrombocytopenic purpura
Long Zheng
Blood, 2012
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Fatal congenital thrombotic thrombocytopenic purpura with apparent ADAMTS13 inhibitor: in vitro inhibition of ADAMTS13 activity by hemoglobin
Bernhard Lämmle
Blood, 2005
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ADAMTS-13 assays in thrombotic thrombocytopenic purpura
Roberta Palla, I. Mackie
Journal of Thrombosis and Haemostasis, 2010
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Thrombotic thrombocytopenic purpura related to severe ADAMTS13 deficiency in children
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Pediatric Nephrology, 2009
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Epitope mapping of ADAMTS13 autoantibodies in acquired thrombotic thrombocytopenic purpura
Bernhard Lämmle
Blood, 2004
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Unique case of autoantibody mediated inactivation of ADAMTS13 in an Indian TTP patient
Renu Saxena
Blood Cells Molecules and Diseases, 2019
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Children and adults with thrombotic thrombocytopenic purpura associated with severe, acquired Adamts13 deficiency: Comparison of incidence, demographic and clinical features
Johanna Kremer
Pediatric Blood & Cancer, 2013
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The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017
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Haematologica, 2019
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The novel ADAMTS13-p.D187H mutation impairs ADAMTS13 activity and secretion and contributes to thrombotic thrombocytopenic purpura in mice
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Journal of thrombosis and haemostasis : JTH, 2014
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