Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia

Ataxia telangiectasia is a rare autosomal recessive multisystem disorder caused by mutations in the gene of ATM serine/threonine kinase. It is characterized by neurodegeneration, leading to severe ataxia, immunodeficiency, increased cancer susceptibility, and telangiectasia. Here, we discovered a co...

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Detalles Bibliográficos
Autores principales: Shalash, Ali S., Rösler, Thomas W., Salama, Mohamed, Pendziwiat, Manuela, Müller, Stefanie H., Hopfner, Franziska, Höglinger, Günter U., Kuhlenbäumer, Gregor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8119284/
https://www.ncbi.nlm.nih.gov/pubmed/33779842
http://dx.doi.org/10.1007/s10048-021-00639-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8119284/
https://www.ncbi.nlm.nih.gov/pubmed/33779842
http://dx.doi.org/10.1007/s10048-021-00639-4

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