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Article

Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization.

The Journal of biological chemistry - 1 May 1998

Tanaka H, Moroi K, Iwai J, Takahashi H, Ohnuma N, Hori S, Takimoto M, Nishiyama M, Masaki T, Yanagisawa M, Sekiya S, Kimura S

Abstract excerpt

Hirschsprung's disease (HSCR) is a congenital intestinal disease, characterized by the absence of ganglion cells in the distal portion of the intestinal tract. Recently, three susceptibility genes have been identified in HSCR, namely the RET protooncogene, the endothelin B (ETB) receptor gene (EDNRB), and the endothelin-3 (ET-3) gene (EDN3). To investigate whether mutations in EDNRB could be related with HSCR in...

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Identifiers

PMID: 9556633
DOI: 10.1074/jbc.273.18.11378

Genes

EDNRB
EDN3
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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Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization.PMID 9556633Read ↗

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