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

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...

Full description

Bibliographic Details
Main Authors: Francesco Callea, Isabella Giovannoni, Sinan Sari, Esendagli Guldal, Buket Dalgic, Gulen Akyol, Tsuyoshi Sogo, Abdulrahman Al-Hussaini, Giuseppe Maggiore, Andrea Bartuli, Renata Boldrini, Paola Francalanci, Emanuele Bellacchio
Format: Article
Language:English
Published: MDPI AG 2017-12-01
Series:International Journal of Molecular Sciences
Subjects:
Fibrinogen Storage Disease
APOB-lipoprotein
Endoplasmic Reticulum Storage Disease
Online Access:https://www.mdpi.com/1422-0067/18/12/2717

Internet

https://www.mdpi.com/1422-0067/18/12/2717

Similar Items