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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 study was carried out to further investigate the USH mutation spectrum in Finnish patients. METHODS: We analysed samples...

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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