Article
A common F13A1 intron 1 variant IVS1+12(A) is associated with mild FXIII deficiency in Caucasian population.
Annals of hematology - 1 Jul 2013
Ivaskevicius Vytautas, Biswas Arijit, Thomas Anne, Lyonga Sophie, Rott Hannelore, Halimeh Susan, Kappert Guenther, Klammroth Robert, Scholz Ute, Eberl Wolfgang, Harbrecht Ursula, Gnida Christine, Hertfelder Hans-Joerg, Marquardt Natascha, Oldenburg Johannes
Abstract excerpt
Mild factor XIII deficiency is an underdiagnosed coagulation disorder. Considering the large number of coding and non-coding polymorphisms identified in the F13A1 gene, there is a possibility that some of these might result in alterations of plasma FXIII levels and cause mild FXIII deficiency. Recently, a homozygous F13A1 gene intron 1 variant (IVS1+12C>A) was found in a patient with FXIII deficiency. In vitro...
Topics
- Adolescent
- Adult
- Aged
- Alleles
- Child
- Child, Preschool
- Factor XIII
- Factor XIII Deficiency
- Female
- Gene Frequency
- Genetic Predisposition to Disease
- Genotype
- Humans