ScholarLens Back to search
1991•American Journal of HematologyRequires access

A new frameshift β°‐thalassemia mutation (codons 27–28 +C) found in a Chinese family

Shiping P. Cai, David H.K. Chui, Judy King Man Ng, Annette Poon, Melvin H. Freedman, Nancy F. Olivieri

Open publisher page 6 citations

Abstract

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-thalassemia major.

About this research paper

What this paper is about

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-thalassemia major.

Why it matters

OpenAlex reports 6 citations for this work. Citation counts describe recorded attention and do not establish research quality.

Key contribution

A contribution statement is not available in the OpenAlex record.

Method / approach

Method details are not available in the OpenAlex metadata.

Main findings

Findings are not separately available in the OpenAlex metadata.

Limitations

Limitations are not available in the OpenAlex metadata.

Applications

Application details are not available in the OpenAlex metadata.

Available abstract

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-thalassemia major.

Key concepts: Frameshift mutation, Thalassemia, Mutation, Genetics, Compound heterozygosity, Cytosine, Biology, Chinese family

Related papers

Related paper 1Related paper 2Related paper 3
Back to paper searchBrowse research topicsOriginal source
A new frameshift β°‐thalassemia mutation (codons 27–28 +C) found in a Chinese family — Research Paper | ScholarLens