Antithrombin Murcia (K241E) causing antithrombin deficiency: a possible role for altered glycosylation

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...

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Detalhes bibliográficos
Main Authors: Martínez-Martínez, Irene, Ordóñez, Adriana, Navarro-Fernández, José, Pérez-Lara, Ángel, Gutiérrez-Gallego, Ricardo, Giraldo, Rafael, Martínez, Constantino, Llop, Esther, Vicente, Vicente, Corral, Javier
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2010
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2913085/
https://ncbi.nlm.nih.gov/pubmed/20435622
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2009.015487
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