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Genotype-phenotype relationships in ataxia-telangiectasia and variants.
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity, and cancer predisposition. A-T cells are sensitive to ionizing radiation and radiomimetic chemicals and fail to activate cell-cycle ch...
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| Auteurs principaux: | , , , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
1998
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1376949/ https://ncbi.nlm.nih.gov/pubmed/9497252 |
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