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Article

Novel RET mutation produces a truncated RET receptor lacking the intracellular signaling domain in a 3-generation family with Hirschsprung disease.

Clinical chemistry - 1 Aug 2005

Lui Vincent C H, Leon Thomas Y Y, Garcia-Barceló Maria-Mercedes, Ganster Raymond W, Chen Benedict L S, Hutson John M, Tam Paul K H

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 16040858
DOI: 10.1373/clinchem.2005.051904

Genes

RET

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Novel RET mutation produces a truncated RET receptor lacking the intracellular signaling domain in a 3-generation family with Hirschsprung disease.PMID 16040858Read ↗

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Current concepts in RET-related genetics, signaling and therapeutics.Semantic proximity Read ↗

Functional Analysis of RET With Hirschsprung Mutations Affecting Its Kinase DomainSemantic proximity Read ↗

Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung DiseaseSemantic proximity Read ↗

RET receptor signaling: dysfunction in thyroid cancer and Hirschsprung's disease.Semantic proximity Read ↗

RET oncogene.Semantic proximity Read ↗

Molecular mechanisms of the development of human disease caused by RET mutations.Semantic proximity Read ↗

Multiple functional effects of RET kinase domain sequence variants in Hirschsprung disease.Semantic proximity Read ↗

Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation.Semantic proximity Read ↗

RET receptor tyrosine kinase gene mutations: molecular biological, physiological and clinical aspects.Semantic proximity Read ↗

RET Receptor Tyrosine Kinase: Role in Neurodegeneration, Obesity, and Cancer.Semantic proximity Read ↗

Functional analyses of RET mutations in Chinese Hirschsprung disease patients.Semantic proximity Read ↗

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