Hepatic fibrinogen storage disease due to the fibrinogen γ375 Arg → Trp mutation "fibrinogen aguadilla" is present in Arabs

Hepatic fibrinogen storage disease due to the fibrinogen γ375 Arg → Trp mutation "fibrinogen aguadilla" is present in Arabs

The mutation γ375Arg → Trp (fibrinogen Aguadilla) is one of four mutations (Brescia, Aguadilla, Angers, and AI duPont) capable of causing hepatic storage of fibrinogen. It has been observed in four children from the Caribbean, Europe, and Japan, suffering from cryptogenic liver disease. We report th...

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Bibliographic Details
Main Authors: Abdulrahman Al-Hussaini, Abdulhadi Altalhi, Imad El Hag, Hussa AlHussaini, Paola Francalanci, Isabella Giovannoni, Francesco Callea
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2014-01-01
Series:The Saudi Journal of Gastroenterology
Subjects:
Endoplasmic reticulum storage disease
fibrinogen
fibrinogen gamma chain
hepatocyte intracytoplasmic inclusions
hypofibrinogenemia
Online Access:http://www.saudijgastro.com/article.asp?issn=1319-3767;year=2014;volume=20;issue=4;spage=255;epage=261;aulast=Al-Hussaini

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http://www.saudijgastro.com/article.asp?issn=1319-3767;year=2014;volume=20;issue=4;spage=255;epage=261;aulast=Al-Hussaini

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