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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Autors principals: Gilad, S, Chessa, L, Khosravi, R, Russell, P, Galanty, Y, Piane, M, Gatti, R A, Jorgensen, T J, Shiloh, Y, Bar-Shira, A
Format: Artigo
Idioma:Inglês
Publicat: 1998
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1376949/
https://ncbi.nlm.nih.gov/pubmed/9497252
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