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pro vyhledávání: '"Paul M. Biggs"'
Autor:
Paul F. Worth, Venkataramanan Srinivasan, Anna Smith, James I. Last, Laura L. Wootton, Paul M. Biggs, Nicholas P. Davies, Ellen F. Carney, Philip J. Byrd, A. Malcolm R. Taylor
Publikováno v:
Movement Disorders. 28:524-528
Background The major clinical feature of ataxia telangiectasia (A-T) is severe progressive neurodegeneration with onset in infancy. This classical A-T phenotype is caused by biallelic null mutations in the ATM gene, leading to the absence of ATM prot
Autor:
Paul F, Worth, Venkataramanan, Srinivasan, Anna, Smith, James I, Last, Laura L, Wootton, Paul M, Biggs, Nicholas P, Davies, Ellen F, Carney, Philip J, Byrd, A Malcolm R, Taylor
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 28(4)
The major clinical feature of ataxia telangiectasia (A-T) is severe progressive neurodegeneration with onset in infancy. This classical A-T phenotype is caused by biallelic null mutations in the ATM gene, leading to the absence of ATM protein and inc