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Angiogenin mutations in Hungarian patients with amyotrophic lateral sclerosis: Clinical, genetic, computational, and functional analyses

INTRODUCTION: Mutations in the angiogenin (ANG) gene are known to be associated with both familial and sporadic amyotrophic lateral sclerosis (ALS). The majority of disease‐causing mutations of ANG result in loss of either ribonucleolytic activity, nuclear translocation activity or both. METHODS: We...

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Detalles Bibliográficos
Autores principales: Tripolszki, Kornélia, Danis, Judit, Padhi, Aditya K., Gomes, James, Bozó, Renáta, Nagy, Zsófia F., Nagy, Dóra, Klivényi, Péter, Engelhardt, József I., Széll, Márta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6576160/
https://www.ncbi.nlm.nih.gov/pubmed/31025543
http://dx.doi.org/10.1002/brb3.1293