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Article

Heterogeneity in ataxia-telangiectasia: classical phenotype associated with intermediate cellular radiosensitivity.

American journal of medical genetics - 1 Mar 1992

Chessa L, Petrinelli P, Antonelli A, Fiorilli M, Elli R, Marcucci L, Federico A, Gandini E

Abstract excerpt

We identified a subgroup of ataxia-telangiectasia (AT) patients (2 sibs and 1 unrelated case) characterized by typical clinical manifestations of the disease and cellular radiosensitivity intermediate between classical AT and normal subjects. Our data and a literature review of the intermediate radiosensitivity AT cases show that radioresistant DNA synthesis, cellular radiosensitivity (measured in terms of...

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PMID: 1632451
DOI: 10.1002/ajmg.1320420524

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