Article
A new codon 31 (-C) mutant resulting in beta zero-thalassemia.
Proceedings of the National Science Council, Republic of China. Part B, Life sciences - 1 Jan 1992
Lin L I, Lin K S, Lin K H
Abstract excerpt
A new beta zero-thalassemia mutation, a frameshift mutation with deletion of a single cytosine nucleotide in codon 31, is described. The propositus, which is compound heterozygous for this mutation and the 17 beta A-T beta zero-thalassemia mutation, has the phenotype of severe beta-thalassemia major.
Topics
- Base Sequence
- Chromosome Deletion
- Codon
- Cytosine
- DNA
- Globins
- Humans
- Infant
- Male
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Oligonucleotide Probes