Article
Poikilocytic hereditary elliptocytosis associated with spectrin Alexandria: an alpha I/50b Kd variant that is caused by a single amino acid deletion.
Blood - 1 Oct 1993
Gallagher P G, Roberts W E, Benoit L, Speicher D W, Marchesi S L, Forget B G
Abstract excerpt
Hereditary elliptocytosis (HE) is a heterogeneous disorder of red blood cells frequently associated with abnormal limited tryptic digestion of the alpha I domain of spectrin and impaired spectrin dimer self-association. We studied two related individuals with poikilocytic hereditary elliptocytosi...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- DNA Primers
- Elliptocytosis, Hereditary
- Erythrocytes
- Follow-Up Studies
- Genetic Variation
- Humans
- Male
- Molecular Sequence Data
- Molecular Weight
- Oligonucleotides, Antisense
- Peptide Fragments
- Polymorphism, Genetic
- Sequence Deletion
- Spectrin