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Article

In Vivo Assessment of Potential Therapeutic Approaches for USH2A-Associated Diseases.

Advances in experimental medicine and biology - 1 Jan 2019

Pendse Nachiket D, Lamas Veronica, Pawlyk Basil S, Maeder Morgan L, Chen Zheng-Yi, Pierce Eric A, Liu Qin

Abstract excerpt

Mutations in USH2A gene account for most cases of Usher syndrome type II (USH2), characterized by a combination of congenital hearing loss and progressive vision loss. In particular, approximately 30% of USH2A patients harbor a single base pair deletion, c.2299delG, in exon 13 that creates a frameshift and premature stop codon, leading to a nonfunctional USH2A protein. The USH2A protein, also known as usherin, is...

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PMID: 31884594
DOI: 10.1007/978-3-030-27378-1_15

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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