Article
Molecular basis for dominantly inherited inclusion body beta-thalassemia.
Proceedings of the National Academy of Sciences of the United States of America - 1 May 1990
Thein S L, Hesketh C, Taylor P, Temperley I J, Hutchinson R M, Old J M, Wood W G, Clegg J B, Weatherall D J
Abstract excerpt
Analysis of the molecular basis of dominantly inherited beta-thalassemia in four families has revealed different mutations involving exon 3 of the beta-globin gene. It is suggested that the phenotypic difference between this condition and the more common recessive forms of beta-thalassemia lies mainly in the length and stability of the abnormal translation products that are synthesized and, in particular, whether...
Topics
- Amino Acid Sequence
- Base Sequence
- Cloning, Molecular
- Erythrocyte Inclusions
- Erythrocytes, Abnormal
- Female
- Genes, Dominant
- Globins
- Humans
- Macromolecular Substances