Associated Papers
The natural history of ataxia-telangiectasia (A-T): A systematic review.
Petley E et al.
Plos One, 2022
35290391 (PubMed )
Supplement: pone.0264177.s005.xlsx › Consanguinuity
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.
Nakamura K et al.
Human Mutation, 2012
Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
George Priya Doss C et al.
Plos One, 2012
Ataxia-telangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2T-->A, and 7883del5, the latter two being relatively common mutations.
Fukao T et al.
Human Mutation, 1998
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