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Article

A new germline point mutation in Ret exon 8 (cys515ser) in a family with medullary thyroid carcinoma.

Thyroid : official journal of the American Thyroid Association - 1 Jul 2008

Fazioli Francesca, Piccinini Gina, Appolloni Gloria, Bacchiocchi Roberta, Palmonella Gioia, Recchioni Rina, Pierpaoli Elisa, Silvetti Francesca, Scarpelli Marina, Bruglia Matteo, Melillo Rosa Marina, Santoro Massimo, Boscaro Marco, Taccaliti Augusto

Abstract excerpt

BACKGROUND: A novel Cys-Ser Ret germline point mutation in a 58-year-old woman with bilateral medullary thyroid carcinoma (MTC) prompted us to perform genetic analysis of the family and evaluate the biological consequences of such a mutation. METHODS: Ret analysis by direct sequencing was perform...

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Identifiers

PMID: 18631007
DOI: 10.1089/thy.2007.0365

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18631007-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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