Article
Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.
Nature genetics - 1 Jun 1996
Eber S W, Gonzalez J M, Lux M L, Scarpa A L, Tse W T, Dornwell M, Herbers J, Kugler W, Ozcan R, Pekrun A, Gallagher P G, Schröter W, Forget B G, Lux S E
Abstract excerpt
Hereditary spherocytosis (HS) is the most common inherited haemolytic anaemia in Northern Europeans. The primary molecular defects reside in the red blood cell (RBC) membrane, particularly in proteins that link the membrane skeleton to the overlying lipid bilayer and its integral membrane constit...
Topics
- Ankyrins
- Base Sequence
- Female
- Genes, Dominant
- Genes, Recessive
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymorphism, Genetic
- Polymorphism, Single-Stranded Conformational
- Promoter Regions, Genetic