Article
Identification of a novel mutation combination in factor XIII deficiency: genetic update to the first reported case in the United States.
International journal of hematology - 1 Feb 2006
Halverstadt Amy, Walsh Sean, Roth Stephen M, Ferrell Robert E, Hagberg James M
Abstract excerpt
A 1967 report described the first known case of congenital factor XIII (FXIII) deficiency in the United States in a male patient with a severe hemorrhagic disorder. The patient's family presented no symptoms of the disorder, but the members were found to have half the normal FXIII activity. Although the molecular basis of the disorder could not be evaluated at the time, the results suggested an autosomal...
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