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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.
The risk of the development of inhibitory antibodies, which are reported in ~ 2% of patients with hemophilia B, can be predicted, especially in patients with large deletions, and these individuals are also at risk of anaphylaxis, and nephrotic syndrome if they receive immu …
The risk of the development of inhibitory antibodies, which are reported in ~ 2% of patients with hemophilia B, can be predicted, esp …
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
Moderate hemophilia B Leyden: identification by polymerase chain reaction, sequencing, and oligomer restriction.
Coyle TE, Spicer T, Michalovic D, Poiesz BJ. Coyle TE, et al. Am J Hematol. 1994 Jul;46(3):234-40. doi: 10.1002/ajh.2830460314. Am J Hematol. 1994. PMID: 7677806
The identification of hemophilia B Leyden with this specific mutation has practical importance to the clinical management because of its unique natural history and significantly better prognosis than classical hemophilia B....
The identification of hemophilia B Leyden with this specific mutation has practical importance to the clinical management because of its uni …
Nucleotide substitutions at the -6 position in the promoter region of the factor IX gene result in different severity of hemophilia B Leyden: consequences for genetic counseling.
Vidaud D, Tartary M, Costa JM, Bahnak BR, Gispert-Sanchez S, Fressinaud E, Gazengel C, Meyer D, Goossens M, Lavergne JM, et al. Vidaud D, et al. Hum Genet. 1993 Apr;91(3):241-4. doi: 10.1007/BF00218264. Hum Genet. 1993. PMID: 8478007
The different phenotypes associated with the G(-6) to A purine nucleotide transition compared with a G(-6) to C transversion provide evidence that this area is directly involved in the regulation of the human factor IX gene expression in vivo by binding of regulatory factors. The …
The different phenotypes associated with the G(-6) to A purine nucleotide transition compared with a G(-6) to C transversion provide evidenc …
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.
Using this equation, we have analyzed TATA boxes containing SNPs associated with human diseases and made in silico predictions of changes in TBP/TATA affinity. An electrophoretic mobility shift assay (EMSA)-based experimental study performed under the most standardized con …
Using this equation, we have analyzed TATA boxes containing SNPs associated with human diseases and made in silico predictions of cha …