[HTML][HTML] Antithrombin Murcia (K241E) causing antithrombin deficiency: a possible role for altered glycosylation
I Martínez-Martínez, A Ordóñez… - …, 2010 - ncbi.nlm.nih.gov
haematologica, 2010•ncbi.nlm.nih.gov
Background Identification of mutations in the SERPINC1 gene has revealed different
mechanisms responsible for antithrombin deficiency. Deletions and nonsense mutations
associate with type I deficiency. Certain missense mutations cause type II deficiency by
affecting the heparin binding site or the reactive center loop, while others result in type I
deficiency by intracellular retention or RNA instability.
mechanisms responsible for antithrombin deficiency. Deletions and nonsense mutations
associate with type I deficiency. Certain missense mutations cause type II deficiency by
affecting the heparin binding site or the reactive center loop, while others result in type I
deficiency by intracellular retention or RNA instability.
Abstract
Background
Identification of mutations in the SERPINC1 gene has revealed different mechanisms responsible for antithrombin deficiency. Deletions and nonsense mutations associate with type I deficiency. Certain missense mutations cause type II deficiency by affecting the heparin binding site or the reactive center loop, while others result in type I deficiency by intracellular retention or RNA instability.
ncbi.nlm.nih.gov