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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書誌詳細
出版年:Int J Mol Sci
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2017
主題:
Article
オンライン･アクセス: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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