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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Dades bibliogràfiques
Publicat a:PLoS One
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2017
Matèries:
Research Article
Accés en línia: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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