Article
Nondeletional α-Thalassemia: Two New Mutations on the α2 Gene.
Hemoglobin - 1 Jan 2020
Ropero Paloma, Arbeteta Jaime, Nieto Jorge M, González Fernando A, González Beatriz, Villegas Ana, Benavente Celina
Abstract excerpt
About 10.0% of α-thalassemia (α-thal) cases are due to point mutations, small deletions, or insertions of one or more bases on the α genes that can alter mRNA processing at the transcription, translation, or post-translation level; these cases are called nondeletional α-thalassemias (α-thal). Most occur within the domain of the α2 gene without changes in the expression of the α1 gene. We present two new...
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