Identification of a novel mutation in the factor VIII gene causing severe haemophilia A

Autor: Trine H. Mogensen, Alex Lund Laursen, Sara K. Nissen, L. H. Poulsen

Publikováno v: BMC Hematology, Vol 18, Iss 1, Pp 1-4 (2018)
BMC Hematology
Nissen, S K, Laursen, A L, Poulsen, L H & Mogensen, T H 2018, ' Identification of a novel mutation in the factor VIII gene causing severe haemophilia A ', BMC Hematology, vol. 18, pp. 17 . https://doi.org/10.1186/s12878-018-0113-4

Background Deficiency in coagulation factor VIII encoded by F8 results in the X-linked recessive bleeding disorder haemophilia A (HEMA). Here we describe the identification of a novel variant in the factor VIII gene, F8, in an adult male patient with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fef14e14625b2e3e6b2272a1fea85d01
http://link.springer.com/article/10.1186/s12878-018-0113-4

Factor 8 (F8) gene mutation profile of Turkish hemophilia A patients with inhibitors

Autor: Cetin Timur, Adalet Meral, Suat Caglayan, Kaan Kavakli, Uçar C, Yurdanur Kilinç, İnanç Değer Fidancı, Sayilan H, Elif Güler Kazanci

Publikováno v: Blood coagulationfibrinolysis : an international journal in haemostasis and thrombosis. 19(5)

PubMedID: 18600086 Factor VIII (FVIII) replacement therapy is ineffective in hemophilia A patients who develop alloantibodies (inhibitors) against FVIII. The type of factor 8 (F8) gene mutation, genes in the major histocompatibility complex loci, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ed2d5b1d136a218804897eba10867f1
https://pubmed.ncbi.nlm.nih.gov/18600086