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 |