Literature DB >> 31582550

Linkage analysis combined with whole-exome sequencing identifies a novel prothrombin (F2) gene mutation in a Dutch Caucasian family with unexplained thrombosis.

René Mulder1, Ton Lisman2, Joost C M Meijers3, James A Huntington4, André B Mulder5, Karina Meijer6.   

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Year:  2019        PMID： 31582550      PMCID： PMC7327647          DOI： 10.3324/haematol.2019.232504

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  7 in total

1.  A novel prothrombin mutation in two families with prominent thrombophilia--the first cases of antithrombin resistance in a Caucasian population.

Authors:  V Djordjevic; M Kovac; P Miljic; M Murata; A Takagi; I Pruner; D Francuski; T Kojima; D Radojkovic
Journal:  J Thromb Haemost       Date:  2013-10       Impact factor: 5.824

Review 2.  Genome-wide association studies for complex traits: consensus, uncertainty and challenges.

Authors:  Mark I McCarthy; Gonçalo R Abecasis; Lon R Cardon; David B Goldstein; Julian Little; John P A Ioannidis; Joel N Hirschhorn
Journal:  Nat Rev Genet       Date:  2008-05       Impact factor: 53.242

3.  New Prothrombin Mutation (Arg596Trp, Prothrombin Padua 2) Associated With Venous Thromboembolism.

Authors:  Cristiana Bulato; Claudia Maria Radu; Elena Campello; Sabrina Gavasso; Luca Spiezia; Daniela Tormene; Paolo Simioni
Journal:  Arterioscler Thromb Vasc Biol       Date:  2016-03-24       Impact factor: 8.311

4.  A prospective cohort study on the absolute risks of venous thromboembolism and predictive value of screening asymptomatic relatives of patients with hereditary deficiencies of protein S, protein C or antithrombin.

Authors:  B K Mahmoodi; J-L P Brouwer; M K Ten Kate; W M Lijfering; N J G M Veeger; A B Mulder; H C Kluin-Nelemans; J Van Der Meer
Journal:  J Thromb Haemost       Date:  2010-03-04       Impact factor: 5.824

5.  Thrombosis from a prothrombin mutation conveying antithrombin resistance.

Authors:  Yuhri Miyawaki; Atsuo Suzuki; Junko Fujita; Asuka Maki; Eriko Okuyama; Moe Murata; Akira Takagi; Takashi Murate; Shinji Kunishima; Michio Sakai; Kohji Okamoto; Tadashi Matsushita; Tomoki Naoe; Hidehiko Saito; Tetsuhito Kojima
Journal:  N Engl J Med       Date:  2012-06-21       Impact factor: 91.245

Review 6.  Deciphering the molecular basis of venous thromboembolism: where are we and where should we go?

Authors:  Pierre-Emmanuel Morange; David-Alexandre Tregouet
Journal:  Br J Haematol       Date:  2009-11-13       Impact factor: 6.998

7.  In vitro exploration of latent prothrombin mutants conveying antithrombin resistance.

Authors:  Shogo Tamura; Moe Murata-Kawakami; Yuki Takagi; Sachiko Suzuki; Akira Katsumi; Akira Takagi; Tetsuhito Kojima
Journal:  Thromb Res       Date:  2017-09-20       Impact factor: 3.944
  7 in total
  1 in total

1.  The genetics of venous thromboembolism: a systematic review of thrombophilia families.

Authors:  Yu Zhang; Zhu Zhang; Shi Shu; Wenquan Niu; Wanmu Xie; Jun Wan; Zhenguo Zhai; Chen Wang
Journal:  J Thromb Thrombolysis       Date:  2021-02       Impact factor: 2.300
  1 in total

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