Severe prekallikrein deficiency due to a homozygous Trp499Stop nonsense mutation-Reference-Cited by-同舟云学术

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Severe prekallikrein deficiency due to a homozygous Trp499Stop nonsense mutation

Published:2011-06 Issue:4 Volume:22 Page:337-339
ISSN:0957-5235
Container-title:Blood Coagulation & Fibrinolysis
language:en
Short-container-title:

Author:

Nakao Takafumi,Yamane Takahisa,Katagami Tomoko,Shiota Masayuki,Izumi Yasukatsu,Samori Tomohiro,Hino Masayuki,Iwao Hiroshi

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Hematology,General Medicine

Reference15 articles.

1. Evidence for a new plasma thromboplastin factor. I: Case report, coagulation studies and physicochemical properties;Hathaway;Blood,1965

2. Heterogeneity of human prekallikrein deficiency (Fletcher trait): evidence that five of 18 cases are positive for cross-reacting material;Saito;N Engl J Med,1981

3. Stroke in a young adult with Fletcher trait;Hess;South Med J,1991

4. An elderly case of congenital prekallikrein deficiency;Nagaya;Nippon Ronen Igakkai Zasshi,2009

5. A case of prekallikrein deficiency resulting in severe recurrent mucosal hemorrhage;Dasanu;Am J Med Sci,2009

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1. Challenges for gene editing in common variable immunodeficiency disorders: Current and future prospects;Clinical Immunology;2024-01

2. Genetic Analysis of Prekallikrein Deficiency in a Consanguineously Married Chinese Family;Turkish Journal of Hematology;2023-12-28

3. Prekallikrein deficiency due to homozygous KLKB1 (+) mutation c.444_445insT (p.Ser151PhefsTer34);International Journal of Laboratory Hematology;2021-11-30

4. 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

5. Diagnostic Pearls and Clinical Implications of Prekallikrein Deficiency;Cureus;2020-05-29

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