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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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Rothblum-Oviatt, Cynthia, Wright, Jennifer, Lefton-Greif, Maureen A., McGrath-Morrow, Sharon A., Crawford, Thomas O., Lederman, Howard M.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2016
Fag:
Review
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5123280/
https://ncbi.nlm.nih.gov/pubmed/27884168
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0543-7
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