Article
An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON).
Blood - 1 Apr 1992
Bouhassira E E, Schwartz R S, Yawata Y, Ata K, Kanzaki A, Qiu J J, Nagel R L, Rybicki A C
Abstract excerpt
Erythrocyte (RBC) protein 4.2 (P4.2)-deficiency observed in Japanese individuals results in a hemolytic anemia associated with abnormally shaped (spherocytic, ovalocytic, and elliptocytic), osmotically fragile RBCs, the clinical presentation of which resembles hereditary spherocytosis (HS). By so...
Topics
- Alanine
- Amino Acid Sequence
- Anemia, Hemolytic
- Base Sequence
- Blood Proteins
- Blotting, Western
- Codon
- Cytoskeletal Proteins
- DNA
- Erythrocyte Membrane
- Humans
- Japan
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Peptide Fragments
- Polymerase Chain Reaction