p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes

Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder characterized by radiosensitivity, genomic instability, and predisposition to cancer. A-T is caused by biallelic mutations in the ataxia-telangiectasia mutated (ATM) gene, but heterozygous carriers, though apparently he...

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Bibliographische Detailangaben
Hauptverfasser: Prodosmo, Andrea, De Amicis, Andrea, Nisticò, Cecilia, Gabriele, Mario, Di Rocco, Giuliana, Monteonofrio, Laura, Piane, Maria, Cundari, Enrico, Chessa, Luciana, Soddu, Silvia
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 2013
Schlagworte:
Technical Advance
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3582149/
https://ncbi.nlm.nih.gov/pubmed/23454770
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI67289
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