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Hemophilia B: molecular pathogenesis and mutation analysis.
Goodeve AC. Goodeve AC. J Thromb Haemost. 2015 Jul;13(7):1184-95. doi: 10.1111/jth.12958. Epub 2015 May 18. J Thromb Haemost. 2015. PMID: 25851415 Free PMC article. Review.
Hemophilia B results from several different mechanisms, and those associated with hemophilia B Leyden, ribosome readthrough of nonsense mutations and apparently 'silent' changes that do not alter amino acid coding are explored. ...
Hemophilia B results from several different mechanisms, and those associated with hemophilia B Leyden, ribosome readthr …
First case report of hemophilia B Leyden in Japan.
Yamashita A, Nagae C, Mori M, Ashikaga T, Kojima T, Taki M. Yamashita A, et al. Int J Hematol. 2017 Jul;106(1):135-137. doi: 10.1007/s12185-017-2194-4. Epub 2017 Feb 7. Int J Hematol. 2017. PMID: 28168417
Hemophilia B Leyden is a unique subtype of hemophilia B, characterized by increasing factor IX activity (FIX:C) after puberty and a lower normal range of FIX:C throughout adulthood. ...This mutation has been reported previously as the Leyden mutation. Althoug …
Hemophilia B Leyden is a unique subtype of hemophilia B, characterized by increasing factor IX activity (FIX:C) after p …
An experimental verification of the predicted effects of promoter TATA-box polymorphisms associated with human diseases on interactions between the TATA boxes and TATA-binding protein.
Savinkova L, Drachkova I, Arshinova T, Ponomarenko P, Ponomarenko M, Kolchanov N. Savinkova L, et al. PLoS One. 2013;8(2):e54626. doi: 10.1371/journal.pone.0054626. Epub 2013 Feb 12. PLoS One. 2013. PMID: 23424617 Free PMC article.
It has been demonstrated that the SNPs associated with increased risk of human diseases such as alpha-, beta- and delta-thalassemia, myocardial infarction and thrombophlebitis, changes in immune response, amyotrophic lateral sclerosis, lung cancer and hemophilia B …
It has been demonstrated that the SNPs associated with increased risk of human diseases such as alpha-, beta- and delta-thalassemia, myocard …
Rabbit polyclonal antibodies against the calcium-dependent conformation of factor IX and their application in solid phase immunoradiometric assays.
Poort SR, van der Linden IK, Krommenhoek-van Es C, Briët E, Bertina RM. Poort SR, et al. Thromb Haemost. 1986 Feb 28;55(1):122-8. Thromb Haemost. 1986. PMID: 3704999
These defects are absent in variant factor IX molecules from one hemophilia Bm patient and from patients with hemophilia B Leyden....
These defects are absent in variant factor IX molecules from one hemophilia Bm patient and from patients with hemophilia B …