Article
Spectrin Anastasia (alpha I/78): a new spectrin variant (alpha 45 Arg-->Thr) with moderate elliptocytogenic potential.
British journal of haematology - 1 Apr 1995
Perrotta S, Iolascon A, De Angelis F, Pagano L, Colonna G, Cutillo S, Miraglia del Giudice E
Abstract excerpt
We describe a white Italian kindred in which hereditary elliptocytosis (HE) is associated with abnormal level of alpha I/78 peptide in spectrin digest. Clinical phenotype varied among the family members ranging from asymptomatic to mild haemolytic HE. The original mutation responsible is a G-C su...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Elliptocytosis, Hereditary
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Protein Structure, Secondary
- Spectrin