Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features

The aim of this study was to carry out genetic screening of the MEN1, CDKN1B and AIP genes, both by direct sequencing of the coding region and multiplex ligation-dependent probe amplification (MLPA) assay in the largest monocentric series of Italian patients with Multiple Endocrine Neoplasia type 1...

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Detalles Bibliográficos
Autores principales: Pardi, Elena, Borsari, Simona, Saponaro, Federica, Bogazzi, Fausto, Urbani, Claudio, Mariotti, Stefano, Pigliaru, Francesca, Satta, Chiara, Pani, Fabiana, Materazzi, Gabriele, Miccoli, Paolo, Grantaliano, Lorena, Marcocci, Claudio, Cetani, Filomena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643132/
https://www.ncbi.nlm.nih.gov/pubmed/29036195
http://dx.doi.org/10.1371/journal.pone.0186485

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643132/
https://www.ncbi.nlm.nih.gov/pubmed/29036195
http://dx.doi.org/10.1371/journal.pone.0186485

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