Article
An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism.
Human genetics - 1 Feb 1993
Dalla Venezia N, Wilmotte R, Morlé L, Forissier A, Parquet N, Garbarz M, Rousset T, Dhermy D, Alloisio N, Delaunay J
Abstract excerpt
The alpha 207 Leu-->Pro mutation in spectrin has recently been identified as a cause of alpha I/50-46a hereditary elliptocytosis (HE) or pyropoikilocytosis among Black people. We have found this mutation in a Moroccan family in both the heterozygous and homozygous states. The mutated alpha-spectr...
Topics
- Alleles
- Base Sequence
- DNA Mutational Analysis
- Elliptocytosis, Hereditary
- Female
- Gene Expression
- Heterozygote
- Humans
- Infant
- Leucine
- Male
- Molecular Sequence Data
- Pedigree
- Point Mutation
- Polymerase Chain Reaction