Publications:

Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases.

Diseases (Basel, Switzerland)

Keeling, Kim M KM

Publication Date: 2016-12

Variant appearance in text: ATM: Y313X

PubMed Link: 28367323

Variant Present in the following documents:

• Main text
• diseases-04-00032.pdf

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Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.

Plos One

Gómez-Grau, Marta M; Garrido, Elena E; Cozar, Mónica M; Rodriguez-Sureda, Víctor V; Domínguez, Carmen C; Arenas, Concepción C; Gatti, Richard A RA; Cormand, Bru B; Grinberg, Daniel D; Vilageliu, Lluïsa L

Publication Date: 2015

Variant appearance in text: ATM: 939C>A; Y313X

PubMed Link: 26287674

Variant Present in the following documents:

• Main text
• pone.0135873.pdf

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