Genetic Spectrum of ATM Founder Mutations and Malignancy in Ataxia-Telangiectasia
BackgroundAtaxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by pathogenic variants in the ATM gene and characterized by genomic instability, immunodeficiency, and a markedly increased risk of cancer. In Costa Rica, a strong founder effect has been described, with four recurre...
Tallennettuna:
| Päätekijät: | , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Rockefeller University Press
2026-05-01
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| Sarja: | Journal of Human Immunity |
| Linkit: | https://rupress.org/jhi/article/2/CIS2026/eCIS2026abstract.212/282043/Genetic-Spectrum-of-ATM-Founder-Mutations-and |
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