Article
Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia.
Nature genetics - 1 Sept 1997
Vorechovský I, Luo L, Dyer M J, Catovsky D, Amlot P L, Yaxley J C, Foroni L, Hammarström L, Webster A D, Yuille M A
Abstract excerpt
Ataxia-telangiectasia (A-T) is a recessive multi-system disorder caused by mutations in the ATM gene at 11q22-q23 (ref. 3). The risk of cancer, especially lymphoid neoplasias, is substantially elevated in A-T patients and has long been associated with chromosomal instability. By analysing tumour DNA from patients with sporadic T-cell prolymphocytic leukaemia (T-PLL), a rare clonal malignancy with similarities to...
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