Hepatic Fibrinogen Storage Disease Due to the Fibrinogen γ375 Arg → Trp Mutation “Fibrinogen Aguadilla” is present in Arabs

The mutation γ375Arg → Trp (fibrinogen Aguadilla) is one of four mutations (Brescia, Aguadilla, Angers, and AI duPont) capable of causing hepatic storage of fibrinogen. It has been observed in four children from the Caribbean, Europe, and Japan, suffering from cryptogenic liver disease. We report th...

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Detalhes bibliográficos
Main Authors: Al-Hussaini, Abdulrahman, Altalhi, Abdulhadi, El Hag, Imad, AlHussaini, Hussa, Francalanci, Paola, Giovannoni, Isabella, Callea, Francesco
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications & Media Pvt Ltd 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4131309/
https://ncbi.nlm.nih.gov/pubmed/25038212
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/1319-3767.136985
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