Article
A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing.
Blood - 1 Oct 2000
Margaglione M, Santacroce R, Colaizzo D, Seripa D, Vecchione G, Lupone M R, De Lucia D, Fortina P, Grandone E, Perricone C, Di Minno G
Abstract excerpt
Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by a hemorrhagic diathesis of variable severity. Although more than 100 families with this disorder have been described, genetic defects have been characterized in few cases. An investigation of a young propositus, offspring of a consanguineous marriage, with undetectable levels of functional and quantitative fibrinogen, was...
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