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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:PLoS One
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Public Library of Science 2017
विषय:
Research Article
ऑनलाइन पहुंच: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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