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Structural Characteristics in the γ Chain Variants Associated with Fibrinogen Storage Disease Suggest the Underlying Pathogenic Mechanism

Particular fibrinogen γ chain mutations occurring in the γ-module induce changes that hamper γ-γ dimerization and provoke intracellular aggregation of the mutant fibrinogen, defective export and plasma deficiency. The hepatic storage predisposes to the development of liver disease. This condition ha...

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Detalles Bibliográficos
Autores principales:	Burcu, Guven, Bellacchio, Emanuele, Sag, Elif, Cebi, Alper Han, Saygin, Ismail, Bahadir, Aysenur, Yilmaz, Guldal, Corbeddu, Marialuisa, Cakir, Murat, Callea, Francesco
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7404023/ https://www.ncbi.nlm.nih.gov/pubmed/32698516 http://dx.doi.org/10.3390/ijms21145139

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