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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發表在:Int J Mol Sci
Main Authors: 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
格式: Artigo
語言:Inglês
出版: MDPI 2017
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Article
在線閱讀: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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