Six molecular patterns leading to hemophilia A phenotype in 18 females from Poland.
Sign Up to like & getrecommendations! Published in 2020 at "Thrombosis research"
DOI: 10.1016/j.thromres.2020.05.041
Abstract: INTRODUCTION Female hemophilia is an intriguing rare disorder and few larger reports on its genetic etiology are available. While historically the diagnosis was satisfactorily reached by factor VIII activity assays, the clinical and potentially therapeutic… read more here.
Keywords: female hemophilia; hemophilia phenotype; etiology; six molecular ... See more keywords
F8 gene inversion and duplication cause no obvious hemophilia A phenotype
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2023.1098795
Abstract: Hemophilia A (HA, OMIM#306700) is an X-linked recessive bleeding disorder caused by the defects in the F8 gene, which encodes coagulation factor VIII (FVIII). Intron 22 inversion (Inv22) is found in about 45% of patients… read more here.
Keywords: hemophilia phenotype; duplication; gene; inversion ... See more keywords