Article
Hereditary elliptocytosis associated with spectrin Le Puy in a Japanese family: ultrastructural aspect of the red cell skeleton.
European journal of haematology - 1 Feb 1994
Maréchal J, Wada H, Koffa T, Kanzaki A, Wilmotte R, Ikoma K, Yawata A, Inoue T, Takanashi K, Miura A
Abstract excerpt
A dominantly-inherited hereditary elliptocytosis of intermediate severity was recorded in a Japanese family from Yamagata. The condition was associated with a spectrin truncated beta-chain (MW: 214 kD; 31% of total beta-spectrin), and a defect of mutant spectrin as regards tetramerization and pho...
Topics
- Base Sequence
- DNA Primers
- Elliptocytosis, Hereditary
- Erythrocyte Membrane
- Female
- Freeze Etching
- Gene Expression
- Humans
- Japan
- Male
- Microscopy, Electron
- Middle Aged
- Molecular Sequence Data
- Mutation
- RNA, Messenger