Article
Moderate reduction of beta-globin gene transcript by a novel mutation in the 5' untranslated region: a study of its interaction with other genotypes in two families.
Blood - 1 Feb 1996
Ho P J, Rochette J, Fisher C A, Wonke B, Jarvis M K, Yardumian A, Thein S L
Abstract excerpt
We have identified two individuals of Greek Cypriot origin with thalassemia intermedia. Molecular analysis has shown that each individual is a compound heterozygote for a previously described beta zero thalassemia allele and a novel mutation, C-->G in position +33, in the 5' untranslated region o...
Topics
- Alleles
- Animals
- Base Sequence
- Cyprus
- DNA Mutational Analysis
- DNA, Complementary
- Female
- Fetal Hemoglobin
- Globins
- Goats
- Haplotypes
- Hemoglobin A2
- Heterozygote
- Humans
- London
- Male
- Mice
- Middle Aged