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

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 ligatio...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8904500/
https://www.ncbi.nlm.nih.gov/pubmed/35260635
http://dx.doi.org/10.1038/s41598-022-07618-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8904500/
https://www.ncbi.nlm.nih.gov/pubmed/35260635
http://dx.doi.org/10.1038/s41598-022-07618-1

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