abstract
- We report a new alpha-thalassemia (alpha-thal) point mutation detected in a woman with alpha(+)-thal. Sequence analyses identified a frameshift mutation at codon 49 (-GC) in exon 2 of the alpha2-globin gene.
Frameshift Mutation in the α2-Globin Gene Causing α+-Thalassemia: Codon 49 (−GC)
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Overview
authors
status
publication date
- January 2008
has subject area
- 1103 Clinical Sciences (FoR)
- Adult (MeSH)
- Canada (MeSH)
- Codon (MeSH)
- Exons (MeSH)
- Female (MeSH)
- Frameshift Mutation (MeSH)
- Globins (MeSH)
- Humans (MeSH)
- Immunology (Science Metrix)
- alpha-Thalassemia (MeSH)
published in
- Hemoglobin Journal