Evaluation and Management of Pulmonary Disease in Ataxia-Telangiectasia

Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by mutations in the ATM gene, resulting in faulty repair of breakages in double-stranded DNA. The clinical phenotype is complex, and is characterized by neurologic abnormalities, immunodeficiencies, susceptibility to malignanc...

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Detalhes bibliográficos
Main Authors: McGrath-Morrow, Sharon A., Gower, W. Adam, Rothblum-Oviatt, Cynthia, Brody, Alan S., Langston, Claire, Fan, Leland L., Lefton-Greif, Maureen A., Crawford, Thomas O., Troche, Michelle, Sandlund, John T, Auwaerter, Paul G., Easley, Blaine, Loughlin, Gerald M., Carroll, John L., Lederman, Howard M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4151879/
https://ncbi.nlm.nih.gov/pubmed/20583220
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ppul.21277
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