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Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants
Background: Thalassemia is the most prevalent monogenic disorder caused by an imbalance between the α- and β-globin chains as a result of pathogenic variants in the α- or β-globin genes. Novel or complex structural changes in globin genes are major hurdles for genetic consulting and prenatal diagnos...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387553/ https://www.ncbi.nlm.nih.gov/pubmed/37529778 http://dx.doi.org/10.3389/fgene.2023.1208102 |