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Article

Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease.

European journal of human genetics : EJHG - 1 May 2003

Nishikawa Mikiko, Murakumo Yoshiki, Imai Tsuneo, Kawai Kumi, Nagaya Masahiro, Funahashi Hiroomi, Nakao Akimasa, Takahashi Masahide

Abstract excerpt

Germline mutations in the RET proto-oncogene are responsible for the development of human hereditary diseases, including multiple endocrine neoplasia (MEN) type 2A and 2B, familial medullary thyroid carcinoma (FMTC), and Hirschsprung's disease (HSCR). It has been reported that some families devel...

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Source

Identifiers

PMID: 12734540
DOI: 10.1038/sj.ejhg.5200971

Genes

RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12734540-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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