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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Neurogenetics
Auteurs principaux: Shalash, Ali S., Rösler, Thomas W., Salama, Mohamed, Pendziwiat, Manuela, Müller, Stefanie H., Hopfner, Franziska, Höglinger, Günter U., Kuhlenbäumer, Gregor
Format: Artigo
Langue:Inglês
Publié: Springer Berlin Heidelberg 2021
Sujets:
Short Communication
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8119284/
https://ncbi.nlm.nih.gov/pubmed/33779842
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-021-00639-4
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires