A-T(Winnipeg): Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity

We studied 10 Mennonite patients who carry the c.6200C>A missense mutation (p.A2067D) in the ATM gene, all of whom exhibited a phenotypic variant of ataxia-telangiectasia (A-T) that is characterized by early-onset dystonia and late-onset mild ataxia, as previously described. This report provides...

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Detalles Bibliográficos
Autores principales: Nakamura, Kotoka, Fike, Francesca, Haghayegh, Sara, Saunders-Pullman, Rachel, Dawson, Angelika J, Dörk, Thilo, Gatti, Richard A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4113274/
https://www.ncbi.nlm.nih.gov/pubmed/25077176
http://dx.doi.org/10.1002/mgg3.72

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