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Autor:
Bart P.C. van de Warrenburg, Tajul A Tajudin, Marieke C. J. Dekker, Nienke J H van Os, Peter J. F. M. Merkus, Michèl A.A.P. Willemsen, Judith van Gaalen, Corry M.R. Weemaes, Laura Silveira-Moriyama, Koen J. van Aerde
Publikováno v:
Journal of the International Child Neurology Association. 1
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder linked to mutations in the ATM gene, and is characterized by neurodegeneration with an early onset cerebellar syndrome, hyperkinetic movement disorders, neuropathy, and oculocutaneous tel