Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen γ-module

Author:

Asselta R.12,Robusto M.12,Braidotti P.3,Peyvandi F.45,Nastasio S.6,D'Antiga L.7,Perisic V. N.8,Maggiore G.6,Caccia S.9,Duga S.12

Affiliation:

1. Department of Biomedical Sciences; Humanitas University; Rozzano Milan Italy

2. Humanitas Clinical and Research Center; Rozzano Italy

3. Pathology Department; S. Paolo Hospital; Milan Italy

4. Department of Pathophysiology and Transplantation; University of Milan; Milan Italy

5. Angelo Bianchi Bonomi Haemophilia and Thrombosis Centre; Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico and Luigi Villa Foundation; Milan Italy

6. Department of Clinical and Experimental Medicine; University of Pisa, Pediatric Gastroenterology; University Hospital Santa Chiara; Pisa Italy

7. Paediatric Liver, GI and Transplantation; Azienda Ospedaliera Papa Giovanni XXIII; Bergamo Italy

8. Department of Gastroenterology and Hepatology; University Children's Hospital; Belgrade Serbia

9. Dipartimento di Biotecnologie Mediche e Medicina Traslazionale; Università degli Studi di Milano; Segrate Milan Italy

Funder

Fondazione Humanitas per la ricerca

Publisher

Wiley

Subject

Hematology

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