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Article

Molecular and clinical characterization of albinism in a large cohort of Italian patients.

Investigative ophthalmology & visual science - 1 Mar 2011

Gargiulo Annagiusi, Testa Francesco, Rossi Settimio, Di Iorio Valentina, Fecarotta Simona, de Berardinis Teresa, Iovine Antonello, Magli Adriano, Signorini Sabrina, Fazzi Elisa, Galantuomo Maria Silvana, Fossarello Maurizio, Montefusco Sandro, Ciccodicola Alfredo, Neri Alberto, Macaluso Claudio, Simonelli Francesca, Surace Enrico Maria

Abstract excerpt

PURPOSE: The purpose of this study was to identify the molecular basis of albinism in a large cohort of Italian patients showing typical ocular landmarks of the disease and to provide a full characterization of the clinical ophthalmic manifestations. METHODS: DNA samples from 45 patients with ocular manifestations of albinism were analyzed by direct sequencing analysis of five genes responsible for albinism: TYR,...

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Identifiers

PMID: 20861488
DOI: 10.1167/iovs.10-6091
PMCID: PMC3101674

Genes

TYR
TYRP1

Provenance

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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