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Literature DB >> 24911489

Expanding rare disease drug trials based on shared molecular etiology.

Philip J Brooks¹, Danilo A Tagle², Steve Groft¹.

Abstract

Entities: Chemical Disease Gene Mutation Species

Mesh：

Year: 2014 PMID： 24911489 PMCID： PMC4548299 DOI： 10.1038/nbt.2924

Source DB: PubMed Journal: Nat Biotechnol ISSN： 1087-0156 Impact factor: 54.908

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42 in total

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3. Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia.

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Review 7. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

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8. Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations.

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9. Nonaminoglycoside compounds induce readthrough of nonsense mutations.

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4. Gene Therapy: The View from NCATS.

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