title: Homozygous Factor X gene mutations Gly380Arg and Tyr163delAT are associated with perinatal intracranial hemorrhage.
abstract: Intracranial hemorrhage (ICH) is a severe complication of Factor X (FX) deficiency. We report 6 homozygous patients with central nervous system (ICH) bleeds. Five patients are homozygous for the mutation Gly380Arg and one for the novel deletion Tyr163delAT. We describe the association of these mutations with ICH bleeding.
authors.affiliation: Greifswald University Hospital, Greifswald, Germany.
authors.forename: Falko H
authors.initials: FH
authors.lastname: Herrmann
authors.forename: Marta
authors.initials: M
authors.lastname: Navarette
authors.forename: Lizbeth
authors.initials: L
authors.lastname: Salazar-Sanchez
authors.forename: Juan M
authors.initials: JM
authors.lastname: Carillo
authors.forename: Guenter
authors.initials: G
authors.lastname: Auerswald
authors.forename: Karin
authors.initials: K
authors.lastname: Wulff
mesh_terms: D003364:Costa Rica; D004252:DNA Mutational Analysis; D005170:Factor X / Q000235:genetics*; D005171:Factor X Deficiency / Q000150:complications* / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D020300:Intracranial Hemorrhages / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense
chemical_list: D005170:Factor X