title: An update of the mutation profile of Factor 13 A and B genes.
abstract: Mutational reports over the past two decades have accumulated an immense amount of literature for inherited Factor XIII deficiency. However, the genotype and phenotype correlations for inherited Factor XIII deficiency are complicated. While many studies clearly prove a cause and effect relationship for the reported mutations, others are lacking in this regard. The F13B gene remains an elusive component as far as inherited Factor XIII deficiencies are concerned. Also, an in-depth analysis into the heterozygous state of this deficiency is also lacking. In this review we have tried to analyze and present an exhaustive amount of mutational data from the past three decades. The source of our mutational data is our website dedicated to Factor XIII deficiencies (www.F13-database.de) as well as literature search done on the Pubmed (www.ncbi.nlm.nih.gov/pubmed).
authors.affiliation: Institute of Experimental Hematology and Transfusion Medicine, University Clinic Bonn, Germany. arijit.Biswas@ukb.uni-bonn.de
authors.forename: Arijit
authors.initials: A
authors.lastname: Biswas
authors.forename: Vytautas
authors.initials: V
authors.lastname: Ivaskevicius
authors.forename: Rainer
authors.initials: R
authors.lastname: Seitz
authors.forename: Anne
authors.initials: A
authors.lastname: Thomas
authors.forename: Johannes
authors.initials: J
authors.lastname: Oldenburg
mesh_terms: D000818:Animals; D030541:Databases, Genetic; D005176:Factor XIII / Q000737:chemistry / Q000235:genetics*; D005177:Factor XIII Deficiency / Q000235:genetics; D026122:Factor XIIIa / Q000737:chemistry / Q000235:genetics*; D018740:Genetic Heterogeneity; D006801:Humans; D020407:Internet; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
chemical_list: D005176:Factor XIII; C054380:factor XIIIb; D026122:Factor XIIIa