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Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either <italic>LMAN1</italic> or <italic>MCFD2,</italic> in a Japanese family.
- Source :
-
Haemophilia . Jan2018, Vol. 24 Issue 1, pe13-e16. 4p. 1 Diagram, 1 Chart. - Publication Year :
- 2018
-
Abstract
- The article discusses an increased frequency of a rare bleeding disorder, which is a combined deficiency of two blood coagulation factors, in regions where consanguineous marriage is practiced. According to the author, this rare bleeding disorder, which is a combination of parahaemophilia and haemophilia A is usually caused by mutations of lectin mannose binding 1 (LMAN1) and multiple coagulation factor deficiency 2 (MCFD2).
Details
- Language :
- English
- ISSN :
- 13518216
- Volume :
- 24
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Haemophilia
- Publication Type :
- Academic Journal
- Accession number :
- 127390512
- Full Text :
- https://doi.org/10.1111/hae.13360