Article
Fibrinogen Gamma Chain Mutations Provoke Fibrinogen and Apolipoprotein B Plasma Deficiency and Liver Storage.
International journal of molecular sciences - 15 Dec 2017
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
Abstract excerpt
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, and China. All reported children presented with a variable degree of histologically proven chronic liver disease...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.