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Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob ‘A’

Inherited disorders of fibrinogen are rare and affect either the quantity (hypofibrinogenaemia and afibrinogenaemia) or the quality of the circulating fibrinogen (dysfibrinogenaemia) or both (hypodysfibrinogenaemia). Extensive allelic heterogeneity has been found for all these disorders: in congenit...

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Autors principals: Vorjohann, Silja, Fish, Richard J., Biron-Andreani, Christine, Nagaswami, Chandrasekaran, Weisel, John W., Boulot, Pierre, Reyftmann, Lionel, de Moerloose, Philippe, Neerman-Arbez, Marguerite
Format: Artigo
Idioma:Inglês
Publicat: 2010
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3090204/
https://ncbi.nlm.nih.gov/pubmed/20806111
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1160/TH10-03-0161
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