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Article

RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest.

Endocrine - 1 Dec 2009

Vaclavikova Eliska, Dvorakova Sarka, Sykorova Vlasta, Bilek Radovan, Dvorakova Katerina, Vlcek Petr, Skaba Richard, Zelinka Tomas, Bendlova Bela

Abstract excerpt

Activating germline RET mutations are presented in patients with familial medullary thyroid carcinoma (FMTC) and multiple endocrine neoplasia (MEN) types 2A and 2B, whereas inactivating germline mutations in patients with Hirschsprung's disease (HSCR). The aim of this study was to evaluate genotype-phenotype correlations of the frequently discussed Tyr791Phe mutation in exon 13 of the RET proto-oncogene....

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Source

Identifiers

PMID: 19826964
DOI: 10.1007/s12020-009-9242-7

Genes

RET

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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