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Article

Extended mutation spectrum of Usher syndrome in Finland.

Acta ophthalmologica - 1 Jun 2013

Västinsalo Hanna, Jalkanen Reetta, Bergmann Carsten, Neuhaus Christine, Kleemola Leenamaija, Jauhola Liisa, Bolz Hanno Jörn, Sankila Eeva-Marja

Abstract excerpt

PURPOSE: The Finnish distribution of clinical Usher syndrome (USH) types is 40% USH3, 34% USH1 and 12% USH2. All patients with USH3 carry the founder mutation in clarin 1 (CLRN1), whereas we recently reported three novel myosin VIIA (MYO7A) mutations in two unrelated patients with USH1. This stud...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22681893
DOI: 10.1111/j.1755-3768.2012.02397.x

Genes

CLRN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22681893-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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