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Article

Two novel transcripts for human endothelin B receptor produced by RNA editing/alternative splicing from a single gene.

The Journal of biological chemistry - 6 Sept 2002

Tanoue Akito, Koshimizu Taka-Aki, Tsuchiya Masako, Ishii Kayano, Osawa Makiko, Saeki Morihiro, Tsujimoto Gozoh

Abstract excerpt

Hirschsprung disease is a heterogeneous genetic disorder, causative genes of which include the endothelin B receptor (ETB). To investigate the mutations of ETB in Hirschsprung disease, expression of the ETB gene in lymphoblastoid cells from patients and normal healthy adults was examined, and novel mutant transcripts were found. The mutant ETB gene transcripts lacked a 134-bp nucleotide sequence corresponding to...

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Identifiers

PMID: 12080062
DOI: 10.1074/jbc.M203972200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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