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Article

Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.

Scientific reports - 8 Mar 2022

Falsini Benedetto, Placidi Giorgio, De Siena Elisa, Chiurazzi Pietro, Minnella Angelo Maria, Savastano Maria Cristina, Ziccardi Lucia, Parisi Vincenzo, Iarossi Giancarlo, Percio Marcella, Piteková Barbora, Marceddu Giuseppe, Maltese Paolo Enrico, Bertelli Matteo

Abstract excerpt

Two-hundred and thirty-four Italian patients with a clinical diagnosis of macular, cone and cone-rod dystrophies (MD, CD, and CRD) were examined using next-generation sequencing (NGS) and gene sequencing panels targeting a specific set of genes, Sanger sequencing and-when necessary-multiplex ligation-dependent probe amplification (MLPA) to diagnose the molecular cause of the aforementioned diseases. When...

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Identifiers

PMID: 35260635
DOI: 10.1038/s41598-022-07618-1
PMCID: PMC8904500

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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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