Article
A new frameshift beta zero-thalassemia mutation (codons 27-28 +C) found in a Chinese family.
American journal of hematology - 1 May 1991
Cai S P, Chui D H, Ng J, Poon A O, Freedman M H, Olivieri N F
Abstract excerpt
A new beta zero-thalassemia mutation, a frameshift mutation with an insertion of a single cytosine nucleotide in codon 27-28, is described. The propositus, who is compound heterozygous for this mutation and the IVSII-654 C----T beta zero-thalassemia mutation, has the phenotype of severe beta-thal...
Topics
- Adult
- Asian People
- Base Sequence
- Codon
- Cytosine
- DNA
- DNA Transposable Elements
- Female
- Frameshift Mutation
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Phenotype
- Thalassemia