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- Title
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.
- Authors
Suzuki, S.; Nakamura, Y.; Takagi, Y.; Tamura, S.; Takagi, A.; Kojima, T.; Suzuki, N.; Matsushita, T.; Yamazaki, T.; Kanematsu, T.
- 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).
- Subjects
HEMOPHILIA; BLOOD coagulation factor V; BLOOD coagulation factor VIII; LECTINS; MANNOSE; GENETIC mutation; CONSANGUINITY
- Publication
Haemophilia, 2018, Vol 24, Issue 1, pe13
- ISSN
1351-8216
- Publication type
Article
- DOI
10.1111/hae.13360