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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2017
Teme:
Research Article
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki