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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

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