Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion

The Hyperparathyroidism with Jaw-Tumours syndrome is caused by mutations of the CDC73 gene: it has been suggested that early onset of the disease and high Ca(2+) levels may predict the presence of a CDC73 mutation. We searched for large deletions at the CDC73 locus in patients with: HPT-JT (nr 2), a...

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Detalles Bibliográficos
Autores principales: Muscarella, Lucia Anna, Turchetti, Daniela, Fontana, Andrea, Baorda, Filomena, Palumbo, Orazio, la Torre, Annamaria, de Martino, Danilo, Franco, Renato, Losito, Nunzia Simona, Repaci, Andrea, Pagotto, Uberto, Cinque, Luigia, Copetti, Massimiliano, Chiofalo, Maria Grazia, Pezzullo, Luciano, Graziano, Paolo, Scillitani, Alfredo, Guarnieri, Vito
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2018
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945533/
https://www.ncbi.nlm.nih.gov/pubmed/29755684
http://dx.doi.org/10.18632/oncotarget.25067

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