Article
Familial hypofibrinogenaemia associated with heterozygous substitution of a conserved arginine residue; Bbeta255 Arg-->His (Fibrinogen Merivale).
Biochimica et biophysica acta - 21 Feb 2003
Maghzal Ghassan J, Brennan Stephen O, Fellowes Andrew P, Spearing Ruth, George Peter M
Abstract excerpt
Sequencing of all three fibrinogen genes from an individual with hypofibrinogenaemia led to the identification of two new point mutations in the Bbeta gene. Family studies showed the mutations Bbeta255 Arg-->His (Fibrinogen Merivale) and Bbeta148 Lys-->Asn (Fibrinogen Merivale II) were on different alleles and that only the Bbeta255 Arg-->His mutation segregated with hypofibrinogenaemia. Three simple...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.