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Article

Mutation analysis of endothelin-B receptor gene in patients with Hirschsprung disease in Taiwan.

Journal of pediatric gastroenterology and nutrition - 1 Jan 2008

Lin Yu-Cheng, Lai Hong-Shiee, Hsu Wen-Ming, Lee Ping-Ing, Chen Huey-Ling, Chang Mei-Hwei

Abstract excerpt

BACKGROUND: Endothelin-B receptor (EDNRB) signaling pathway is associated for Hirschsprung disease (HSCR). The aim of this study was to investigate the EDNRB gene mutation in patients with HSCR in Taiwan and correlate the genotype and phenotype. PATIENTS AND METHODS: Using polymerase chain reaction amplification and direct sequencing, we screened for mutations in the coding regions and intron/exon boundaries of...

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Identifiers

PMID: 18162831
DOI: 10.1097/01.mpg.0000304451.54057.df

Genes

EDNRB

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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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