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Hereditary Fibrinogen Aα-Chain Amyloidosis in Asia: Clinical and Molecular Characteristics

Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders

Atherosclerosis and Thrombosis Unit, I.R.C.C.S. “Casa Sollievo della Sofferenza”, 71013 San Giovanni Rotondo, Italy
Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2018, 19(6), 1597;
Received: 15 April 2018 / Revised: 23 May 2018 / Accepted: 25 May 2018 / Published: 29 May 2018
(This article belongs to the Special Issue Genetic Basis of Fibrinogen Disorders)
Congenital fibrinogen disorders can be quantitative (afibrinogenemia, hypofibrinogenemia) or functional (dysfibrinognemia). To date, several genetic variants have been identified in individuals with fibrinogen disorders. The complexity of the fibrinogen molecules, formed by three non-identical chains and with a trinodal organization, renders the identification of molecular causes and of clinical and biochemical phenotypes very challenging. However, the acknowledgement of the type of molecular defect is crucial for a safer therapy, which is going to improve the clinical management of these patients. In this review, some aspects concerning molecular and clinical findings available on congenital fibrinogen disorders will be discussed. View Full-Text
Keywords: afibrinogenemia; hypofibrinogenemia; dysfibrinogenemia afibrinogenemia; hypofibrinogenemia; dysfibrinogenemia
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MDPI and ACS Style

Tiscia, G.L.; Margaglione, M. Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders. Int. J. Mol. Sci. 2018, 19, 1597.

AMA Style

Tiscia GL, Margaglione M. Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders. International Journal of Molecular Sciences. 2018; 19(6):1597.

Chicago/Turabian Style

Tiscia, Giovanni L.; Margaglione, Maurizio. 2018. "Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders" Int. J. Mol. Sci. 19, no. 6: 1597.

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