Novel homozygous ataxia-telangiectasia (A-T) mutated gene mutation identified in a Chinese pedigree with A-T

Ataxia-telangiectasia (A-T) syndrome is a rare autosomal recessive disorder mainly caused by mutations in the A-T mutated (ATM) gene. However, the genomic abnormalities and their consequences associated with the pathogenesis of A-T syndrome remain to be fully elucidated. In the present study, a whol...

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Detalles Bibliográficos
Autores principales: Chen, Weicheng, Liu, Sida, Hu, Huifang, Chen, Gang, Zhu, Shaicheng, Jia, Bing, Sheng, Wei, Huang, Guoying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2019
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625389/
https://www.ncbi.nlm.nih.gov/pubmed/31257506
http://dx.doi.org/10.3892/mmr.2019.10402

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625389/
https://www.ncbi.nlm.nih.gov/pubmed/31257506
http://dx.doi.org/10.3892/mmr.2019.10402

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