Article
Familial erythrocytosis genetically linked to erythropoietin receptor gene.
Lancet (London, England) - 9 Jan 1993
de la Chapelle A, Sistonen P, Lehväslaiho H, Ikkala E, Juvonen E
Abstract excerpt
Familial erythrocytosis is heterogeneous with diverse causes. Using a highly informative, simple sequence repeat polymorphism in the 5' region of the erythropoietin receptor gene (EPOR), we did linkage analysis in a large family whose clinical and genealogical features were known. There were no r...
Topics
- Base Sequence
- Female
- Genetic Linkage
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Phenotype
- Polycythemia
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Receptors, Erythropoietin