Article
A variant of spectrin low-expression allele alpha LELY carrying a hereditary elliptocytosis mutation in codon 28.
British journal of haematology - 1 Nov 1994
Randon J, Boulanger L, Marechal J, Garbarz M, Vallier A, Ribeiro L, Tamagnini G, Dhermy D, Delaunay J
Abstract excerpt
Allele alpha LELY is a low-expression allele of the erythroid spectrin alpha-gene. It carries mutations in exon 40 (alpha V/41 polymorphism) and intron 45, respectively, and is associated with partial skipping of exon 46. The latter phenomenon is thought to impair the recruitment of alpha-chains...
Topics
- Alleles
- Base Sequence
- Elliptocytosis, Hereditary
- Erythrocytes
- Female
- Gene Expression
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymorphism, Genetic
- Restriction Mapping
- Spectrin