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Title

In vitro rescue of FGA deletion by lentiviral transduction of afibrinogenemic patient's hepatocytes

Authors
Stroka, Deborah
Keogh, Adrian
Stoffel, Michael H
Kühni-Boghenbor, Kathrin
Furer, Cynthia
Banz, Vanessa
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Published in Journal of Thrombosis and Haemostasis. 2014, vol. 12, no. 11, p. 1874-1879
Abstract Congenital afibrinogenemia is a rare inherited autosomal recessive disorder in which a mutation in one of three genes coding for the fibrinogen polypeptide chains Aα, Bβ or γ results in the absence of a functional coagulation protein. A patient with congenital afibrinogenemia, due to a FGA homozygous gene deletion, underwent an orthotopic liver transplantation that resulted in complete restoration of normal hemostasis. The patient's explanted liver provided a unique opportunity to further investigate a potential novel treatment modality.
Identifiers
PMID: 25163824
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Research group Bases moléculaires des anomalies génétiques de l'hémostase (504)
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STROKA, Deborah et al. In vitro rescue of FGA deletion by lentiviral transduction of afibrinogenemic patient's hepatocytes. In: Journal of Thrombosis and Haemostasis, 2014, vol. 12, n° 11, p. 1874-1879. https://archive-ouverte.unige.ch/unige:40405

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Deposited on : 2014-09-23

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