Fibrinogen Gamma Chain Mutations Provoke Fibrinogen and Apolipoprotein B Plasma Deficiency and Liver Storage

p.R375W (Fibrinogen Aguadilla) is one out of seven identified mutations (Brescia, Aguadilla, Angers, Al du Pont, Pisa, Beograd, and Ankara) causing hepatic storage of the mutant fibrinogen γ. The Aguadilla mutation has been reported in children from the Caribbean, Europe, Japan, Saudi Arabia, Turkey...

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Détails bibliographiques
Publié dans:Int J Mol Sci
Auteurs principaux: Callea, Francesco, Giovannoni, Isabella, Sari, Sinan, Guldal, Esendagli, Dalgic, Buket, Akyol, Gulen, Sogo, Tsuyoshi, Al-Hussaini, Abdulrahman, Maggiore, Giuseppe, Bartuli, Andrea, Boldrini, Renata, Francalanci, Paola, Bellacchio, Emanuele
Format: Artigo
Langue:Inglês
Publié: MDPI 2017
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5751318/
https://ncbi.nlm.nih.gov/pubmed/29244742
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms18122717
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