The Old and the New in Prekallikrein Deficiency: Historical Context and a Family from Argentina with PK Deficiency due to a New Mutation (Arg541Gln) in Exon 14 Associated with a Common Polymorphysm (Asn124Ser) in Exon 5-Reference-Cited by-同舟云学术

The Old and the New in Prekallikrein Deficiency: Historical Context and a Family from Argentina with PK Deficiency due to a New Mutation (Arg541Gln) in Exon 14 Associated with a Common Polymorphysm (Asn124Ser) in Exon 5

Published:2014-07-30 Issue:05 Volume:40 Page:592-599
ISSN:0094-6176
Container-title:Seminars in Thrombosis and Hemostasis
language:en
Short-container-title:Semin Thromb Hemost

Author:

Vidal Josè¹,Salagh Marcela¹,Gervan Nora¹,Parody Maria¹,Peroni Edoardo²,Sambado Luisa²,Guglielmone Hugo¹,Girolami Antonio²

Affiliation:

1. Department of Clinical Biochemistry and San Roque Hospital, Faculty of Chemical Sciences, National University of Cordoba, Cordoba, Argentina

2. Department of Medicine, University of Padua Medical School, Padua, Italy

Publisher

Georg Thieme Verlag KG

Subject

Cardiology and Cardiovascular Medicine,Hematology

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0034-1384767.pdf

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1. A Rare Cause of Isolated Prolonged Activated Partial Thromboplastin Time: An Overview of Prekallikrein Deficiency and the Contact System;Journal of Investigative Medicine High Impact Case Reports;2021-01

2. Severe plasma prekallikrein deficiency: Clinical characteristics, novel KLKB1 mutations, and estimated prevalence;Journal of Thrombosis and Haemostasis;2020-05-15

3. Long-term safety outcomes of prekallikrein (Fletcher factor) deficiency: A systematic literature review of case reports;Allergy and Asthma Proceedings;2020-01-17

4. Cardiovascular diseases in congenital prekallikrein deficiency;Blood Coagulation & Fibrinolysis;2018-07

5. A structure–function analysis in patients with prekallikrein deficiency;Hematology;2017-11-22