Identification of Two Novel Mutations in the ATM Gene from Patients with Ataxia-Telangiectasia by Whole Exome Sequencing

BACKGROUND: Ataxia telangiectasia (AT) is one of the most common autosomal recessive hereditary ataxia presenting in childhood. The responsible gene for AT designated ATM (AT, mutated) encodes a protein which is involved in cell cycle checkpoints and other responses to genotoxicity. We describe two...

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Detalles Bibliográficos
Autores principales: Heidari, Masoud, Soleyman-Nejad, Morteza, Taskhiri, Mohammad H., Shahpouri, Javad, Isazadeh, Alireza, Ahangari, Roghayyeh, Mohamadi, Ali R., Ebrahimi, Masoumeh, Karimi, Hadi, Bolhassani, Manzar, Karimi, Zahra, Heidari, Mansour
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bentham Science Publishers 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7327971/
https://www.ncbi.nlm.nih.gov/pubmed/32655291
http://dx.doi.org/10.2174/1389202920666191107153734

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7327971/
https://www.ncbi.nlm.nih.gov/pubmed/32655291
http://dx.doi.org/10.2174/1389202920666191107153734

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