Abstract
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.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Base Sequence
-
Chromosome Deletion
-
Codon / genetics*
-
Cytosine
-
DNA / chemistry
-
Globins / genetics*
-
Humans
-
Infant
-
Male
-
Molecular Sequence Data
-
Mutation*
-
Nucleic Acid Hybridization
-
Oligonucleotide Probes
-
Thalassemia / genetics*
Substances
-
Codon
-
Oligonucleotide Probes
-
Cytosine
-
Globins
-
DNA