Literature DB >> 29748776

Distinctive regional-specific PROS1 mutation spectrum in Southern China.

Nelson C N Chan1, Chi-Keung Cheng1, Kelvin C F Chan2, Connie M L Wong1, Kin-Mang Lau1, Joyce H Y Kwong2, Natalie P H Chan1, Wai-Shan Wong3, Eudora Y D Chow4, Michael L G Wong2, Raymond W Chu5, Rosalina K L Ip1, Margaret H L Ng6,7.   

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Year:  2018        PMID： 29748776     DOI： 10.1007/s11239-018-1660-z

Source DB:  PubMed          Journal:  J Thromb Thrombolysis        ISSN： 0929-5305            Impact factor:   2.300


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  20 in total

1.  Protein S-K196E mutation as a genetic risk factor for deep vein thrombosis in Japanese patients.

Authors:  Rina Kimura; Shigenori Honda; Tomio Kawasaki; Hajime Tsuji; Seiji Madoiwa; Yoichi Sakata; Tetsuhito Kojima; Mitsuru Murata; Kazuhiro Nishigami; Masaaki Chiku; Tokio Hayashi; Yoshihiro Kokubo; Akira Okayama; Hitonobu Tomoike; Yasuo Ikeda; Toshiyuki Miyata
Journal:  Blood       Date:  2006-02-15       Impact factor: 22.113

2.  Genetic structure of the Han Chinese population revealed by genome-wide SNP variation.

Authors:  Jieming Chen; Houfeng Zheng; Jin-Xin Bei; Liangdan Sun; Wei-hua Jia; Tao Li; Furen Zhang; Mark Seielstad; Yi-Xin Zeng; Xuejun Zhang; Jianjun Liu
Journal:  Am J Hum Genet       Date:  2009-12       Impact factor: 11.025

3.  Genotype and laboratory and clinical phenotypes of protein s deficiency.

Authors:  Sebastian Duebgen; Teresa Kauke; Christoph Marschall; Andreas Giebl; Susanne Lison; Christina Hart; Andrea Dick; Michael Spannagl
Journal:  Am J Clin Pathol       Date:  2012-02       Impact factor: 2.493

4.  PROS1 genotype phenotype relationships in a large cohort of adults with suspicion of inherited quantitative protein S deficiency.

Authors:  Martine Alhenc-Gelas; Genevieve Plu-Bureau; Marie Hélène Horellou; Antoine Rauch; Pierre Suchon
Journal:  Thromb Haemost       Date:  2015-10-15       Impact factor: 5.249

5.  Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene.

Authors:  S Gandrille; D Borgel; V Eschwege-Gufflet; M Aillaud; M Dreyfus; C Matheron; P Gaussem; J F Abgrall; B Jude; P Sie
Journal:  Blood       Date:  1995-01-01       Impact factor: 22.113

6.  Genetic predisposition of white matter infarction with protein S deficiency and R355C mutation.

Authors:  T W Leung; S-F Yip; C-W Lam; T L Chan; W W M Lam; D Y W Siu; Y H Fan; N P H Chan; H S Y Liu; L-C Chan; K-S Wong
Journal:  Neurology       Date:  2010-12-14       Impact factor: 9.910

Review 7.  Protein S abnormalities: a diagnostic nightmare.

Authors:  Richard A Marlar; Jana N Gausman
Journal:  Am J Hematol       Date:  2011-05       Impact factor: 10.047

8.  A method and server for predicting damaging missense mutations.

Authors:  Ivan A Adzhubei; Steffen Schmidt; Leonid Peshkin; Vasily E Ramensky; Anna Gerasimova; Peer Bork; Alexey S Kondrashov; Shamil R Sunyaev
Journal:  Nat Methods       Date:  2010-04       Impact factor: 28.547

9.  Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population.

Authors:  Hee-Jin Kim; Ja-Young Seo; Ki-O Lee; Sung-Hwan Bang; Seung-Tae Lee; Chang-Seok Ki; Jong-Won Kim; Chul Won Jung; Duk-Kyung Kim; Sun-Hee Kim
Journal:  Haematologica       Date:  2013-10-25       Impact factor: 9.941

Review 10.  Protein S and C4b-binding protein: components involved in the regulation of the protein C anticoagulant system.

Authors:  B Dahlbäck
Journal:  Thromb Haemost       Date:  1991-07-12       Impact factor: 5.249
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  2 in total

1.  Carrier frequencies of antithrombin, protein C, and protein S deficiency variants estimated using a public database and expression experiments.

Authors:  Keiko Maruyama; Koichi Kokame
Journal:  Res Pract Thromb Haemost       Date:  2020-11-27

2.  [Clinical manifestations and gene analysis of 18 cases of hereditary protein S deficiency].

Authors:  D L Zhang; F Xue; R F Fu; Y F Chen; X F Liu; W Liu; Y J Jia; H Y Li; Y H Wang; Z J Xiao; L Zhang; R C Yang
Journal:  Zhonghua Xue Ye Xue Za Zhi       Date:  2022-01-14
  2 in total

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