Article
The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum.
Blood - 15 May 1996
Alloisio N, Texier P, Denoroy L, Berger C, Miraglia del Giudice E, Perrotta S, Iolascon A, Gilsanz F, Berger G, Guichard J
Abstract excerpt
We studied 20 individuals from 17 unrelated families with congenital dyserythropoietic anemia (type II; CDAII). The clinical phenotype was mild to moderate. The inheritance pattern was invariably recessive. Coomassie blue stained gels after sodium dodecyl sulfate-polyacrylamide gel electrophoresi...
Topics
- Amino Acid Sequence
- Anemia, Dyserythropoietic, Congenital
- Anion Exchange Protein 1, Erythrocyte
- Biomarkers
- Blotting, Western
- Calcium-Binding Proteins
- Calreticulin
- Carrier Proteins
- Endoplasmic Reticulum Chaperone BiP
- Endoplasmic Reticulum, Smooth
