The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through - Concepedia

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The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through

DOI Full Paper Access

46

Citations

42

References

2012

Year

Xuan Huang, Mengnan Tian, Ciria C. Hernández, Ningning Hu, Robert L. Macdonald

Neurobiology of Disease

Dravet SyndromeMendelian DisorderGenetic DisorderGeneticsMolecular BiologyMolecular GeneticsDisease Gene IdentificationTruncated SubunitGabrg2 Nonsense MutationMedicine

References

	Year	Citations

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