Venous thromboembolism associated with protein S deficiency due to $$\hbox {Arg}451^{*}$$ Arg 451 ∗ mutation in PROS1 gene: a case report and a literature review-Reference-Cited by-同舟云学术

Venous thromboembolism associated with protein S deficiency due to $$\hbox {Arg}451^{*}$$ Arg 451 ∗ mutation in PROS1 gene: a case report and a literature review

Published:2017-12 Issue:6 Volume:96 Page:1047-1051
ISSN:0022-1333
Container-title:Journal of Genetics
language:en
Short-container-title:J Genet

Author:

Wypasek Ewa,Karpinski Marek,Alhenc-Gelas Martine,Undas Anetta

Funder

Narodowym Centrum Nauki (PL)

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://link.springer.com/article/10.1007/s12041-017-0865-9/fulltext.html

Reference25 articles.

1. Alhenc-Gelas M., Juin F., de Raucourt E., Gandrille S., Borgel D. and Aiach M. 2007 Influence of PROS1 gene mutations affecting protein S amino-acid 275 on plasma free protein S measurement. Thromb. Haemost. 97, 678–680.

2. Andersen B. D., Lind B., Philips M., Hansen A. B., Ingerslev J. and Thorsen S. 1996 Two mutations in exon XII of the protein S a gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA. Thromb. Haemost. 76, 143–150.

3. Andersen B. D., Bisgaard M. L., Mustafa S. and Mannhalter C. 1999 Founder effect in protein S-deficient families sharing a hot spot mutation in PROS1. Blood 93, 759.

4. Bertina R. M. 1990 Nomenclature proposal for protein S deficiency. XXXVI Annual meeting of the Scientific and Standardization Committee of the ISTH, Barcelona, Spain.

5. Biguzzi E., Razzari C., Lane D. A., Castaman G., Cappellari A. and Bucciarelli P. 2005 Protein S Italian team molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study. Hum. Mutat. 25, 259–269.

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