Associated Papers
Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.
Marín Ò et al.
Scientific Reports, 2019
31267011 (PubMed )
Supplement: 41598_2019_45916_MOESM2_ESM.xlsx › Variants_used
Missense mutations near the N-glycosylation site of the A2 domain lead to various intracellular trafficking defects in coagulation factor VIII.
Wei W et al.
Scientific Reports, 2017
Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A.
Ahmed RP et al.
Haematologica, 2005
Somatic mosaicism in hemophilia A: a fairly common event.
Leuer M et al.
American Journal of Human Genetics, 2001
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