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Article

Heterogeneity and low detection rate of RET mutations in Hirschsprung disease.

European journal of human genetics : EJHG - 1 Jan 1994

Yin L, Barone V, Seri M, Bolino A, Bocciardi R, Ceccherini I, Pasini B, Tocco T, Lerone M, Cywes S

Abstract excerpt

Mutations in some exons of the RET proto-oncogene were recently observed in Hirschsprung patients. Using DNA polymorphisms and single-strand conformation polymorphism analysis for the whole coding sequence of the RET proto-oncogene, 82 unrelated Hirschsprung patients were screened systematically. A total of 4 complete deletions of RET and 12 point mutations were identified, each present in no more than one...

Topics

Blotting, Southern
Drosophila Proteins
Hirschsprung Disease
Humans
In Situ Hybridization
Mutation
Polymorphism, Genetic
Proto-Oncogene Mas
Proto-Oncogene Proteins
Proto-Oncogene Proteins c-ret

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptor Protein-Tyrosine Kinases

Source

Identifiers

PMID: 7704557
DOI: 10.1159/000472371

Genes

RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7704557-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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