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Article

Four-year follow-up of diagnostic service in USH1 patients.

Investigative ophthalmology & visual science - 8 Jun 2011

Roux Anne-Françoise, Faugère Valérie, Vaché Christel, Baux David, Besnard Thomas, Léonard Susana, Blanchet Catherine, Hamel Christian, Mondain Michel, Gilbert-Dussardier Brigitte, Edery Patrick, Lacombe Didier, Bonneau Dominique, Holder-Espinasse Muriel, Ambrosetti Umberto, Journel Hubert, David Albert, Lina-Granade Geneviève, Malcolm Sue, Claustres Mireille

Abstract excerpt

PURPOSE: The purpose of this study was to establish the mutation spectrum of an Usher type I cohort of 61 patients from France and to describe a diagnostic strategy, including a strategy for estimating the pathogenicity of sequence changes. METHODS: To optimize the identification of Usher (USH)-causative mutations, taking into account the genetic heterogeneity, preliminary haplotyping at the five USH1 loci was...

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PMID: 21436283
DOI: 10.1167/iovs.10-6869

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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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