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Article

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

PloS one - 1 Jan 2017

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

Abstract excerpt

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 syndrome (MEN1) and Familial Isolated Hyperparathyroidism (FIHP). The study also aimed to describe and compare the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 29036195
DOI: 10.1371/journal.pone.0186485
PMCID: PMC5643132

Genes

MEN1
AIP
CDC73

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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