abstract
- We report a new alpha-thalassemia (alpha-thal) point mutation detected in a woman with alpha(+)-thal trait. Sequence analysis identified a nonsense mutation in exon 2 of the alpha2-globin gene, at amino acid codon 54 (CAG>TAG).
α+-Thalassemia Trait Caused by a Nonsense Mutation in the α2-Globin Gene: Codon 54 (CAG>TAG)
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Overview
authors
status
publication date
- January 2009
has subject area
- 1103 Clinical Sciences (FoR)
- Aged (MeSH)
- Codon, Nonsense (MeSH)
- DNA Mutational Analysis (MeSH)
- Exons (MeSH)
- Female (MeSH)
- Humans (MeSH)
- Immunology (Science Metrix)
- Point Mutation (MeSH)
- alpha-Globins (MeSH)
- alpha-Thalassemia (MeSH)
published in
- Hemoglobin Journal