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...
I tiakina i:
| Ngā kaituhi matua: | , , , , |
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| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Rockefeller University Press
2026-05-01
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| Rangatū: | Journal of Human Immunity |
| Urunga tuihono: | https://rupress.org/jhi/article/2/CIS2026/eCIS2026abstract.212/282043/Genetic-Spectrum-of-ATM-Founder-Mutations-and |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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