Article
Humanized beta-thalassemia mouse model containing the common IVSI-110 splicing mutation.
The Journal of biological chemistry - 17 Mar 2006
Vadolas Jim, Nefedov Mikhail, Wardan Hady, Mansooriderakshan Sima, Voullaire Lucille, Jamsai Duangporn, Williamson Robert, Ioannou Panayiotis A
Abstract excerpt
Splicing mutations are common causes of beta-thalassemia. Some splicing mutations permit normal splicing as well as aberrant splicing, which can give a reduced level of normal beta-globin synthesis causing mild disease (thalassemia intermedia). For other mutations, normal splicing is reduced to low levels, and patients are transfusion-dependent when homozygous for the disease. The development of therapies for...
Topics
- Alternative Splicing
- Amino Acid Sequence
- Animals
- Base Sequence
- Disease Models, Animal
- Genetic Complementation Test
- Genotype
- Globins
- Hemoglobins
- Heterozygote
- Homozygote
- Humans
- In Situ Hybridization, Fluorescence