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Published in 2018 at "BMC Pediatrics"
DOI: 10.1186/s12887-018-1156-1
Abstract: BackgroundAtaxia telangiectasia (AT) is a rare, multi-systemic, genetic disorder. Mutations in the ATM gene cause dysfunction in cell-cycle, apoptosis and V (D) J recombination leading to neurodegeneration, cellular, humoral immunodeficiencies and predisposition to malignancies. Previous…
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Keywords:
phenotype;
levels marker;
igm levels;
group ... See more keywords