Title : Familial hypofibrinogenaemia associated with heterozygous substitution of a conserved arginine residue; Bbeta255 Arg-->His (Fibrinogen Merivale).

Pub. Date : 2003 Feb 21

PMID : 12573244






2 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 Familial hypofibrinogenaemia associated with heterozygous substitution of a conserved arginine residue; Bbeta255 Arg-->His (Fibrinogen Merivale). Histidine fibrinogen beta chain Homo sapiens
2 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. Histidine fibrinogen beta chain Homo sapiens