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Ataxia telangiectasia: a review

DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syn...

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Detalles Bibliográficos
Autores principales:	Rothblum-Oviatt, Cynthia, Wright, Jennifer, Lefton-Greif, Maureen A., McGrath-Morrow, Sharon A., Crawford, Thomas O., Lederman, Howard M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123280/ https://www.ncbi.nlm.nih.gov/pubmed/27884168 http://dx.doi.org/10.1186/s13023-016-0543-7

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