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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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5643132/
https://ncbi.nlm.nih.gov/pubmed/29036195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0186485
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