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Article

The effect of the common c.2299delG mutation in USH2A on RNA splicing.

Experimental eye research - 1 May 2014

Lenassi Eva, Saihan Zubin, Bitner-Glindzicz Maria, Webster Andrew R

Abstract excerpt

Recessive variants in the USH2A gene are an important cause of both Usher syndrome and nonsyndromic retinitis pigmentosa. A single base-pair deletion in exon 13 (c.2299delG, p.Glu767Serfs*21) is considered the most frequent mutation of USH2A. It is predicted to generate a premature termination codon and is presumed to lead to nonsense mediated decay. However the effect of this variant on RNA has not been formally...

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PMID: 24607488
DOI: 10.1016/j.exer.2014.02.018

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The effect of the common c.2299delG mutation in USH2A on RNA splicing.PMID 24607488Read ↗

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