Article
Unusual A alpha 16Arg-->Cys dysfibrinogenaemic family: absence of normal A alpha-chains in fibrinogen from two of four heterozygous siblings.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Feb 1993
Galanakis D, Spitzer S, Scharrer I
Abstract excerpt
We describe studies of fibrinogen from an asymptomatic family, Fibrinogen Frankfurt XIII, with the substitution A alpha 16Arg-->Cys. The mother's fibrinogen was normal as assessed by plasma fibrinogen assays but the father and four children were affected. Two affected siblings and their father ha...
Topics
- Alleles
- Arginine
- Batroxobin
- Bleeding Time
- Blood Coagulation
- Cystine
- Family Health
- Fibrinogens, Abnormal
- Humans
- Molecular Structure
- Pedigree
- Thrombin