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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 co...

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24607488-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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