The Factor VII Variant p.A354V-p.P464Hfs: Clinical versus Intracellular and Biochemical Phenotypes Induced by Chemical Chaperones
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DOI: 10.3390/app11135762
Abstract: (1) Background: Congenital factor (F) VII deficiency is caused by mutations in the F7 gene. Patients with modest differences in FVII levels may display large differences in clinical severity. The variant p.A354V-p.P464Hfs is associated with… read more here.
Keywords: factor vii; a354v p464hfs; variant; variant a354v ... See more keywords