Homozygous Factor X gene mutations Gly380Arg and Tyr163delAT are associated with perinatal intracranial hemorrhage

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 mutat...

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Veröffentlicht in:	The Journal of pediatrics 2005, Vol.146 (1), p.128-130
Hauptverfasser:	Herrmann, Falko H., Navarette, Marta, Salazar-Sanchez, Lizbeth, Carillo, Juan M., Auerswald, Guenter, Wulff, Karin
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Costa Rica DNA Mutational Analysis Factor X - genetics Factor X Deficiency - complications Factor X Deficiency - genetics Female Gene Deletion General aspects Homozygote Humans Infant, Newborn Intracranial Hemorrhages - genetics Male Medical sciences Mutation, Missense Neurology Vascular diseases and vascular malformations of the nervous system
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