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Article

Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease

1 Apr 1999

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 10090908
DOI: 10.1086/302329

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Related research

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Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung DiseasePMID 10090908Read ↗

Molecular heterogeneity of RET loss of function in Hirschsprung's disease.Semantic proximity Read ↗

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patientSemantic proximity Read ↗

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

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease.Semantic proximity Read ↗

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

Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease.Semantic proximity Read ↗

Genetic analysis of RET, EDNRB, and EDN3 genes and three SNPs in MCS + 9.7 in Chinese Patients with isolated Hirschsprung disease.Semantic proximity Read ↗

A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's diseaseSemantic proximity Read ↗

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

New mutations associated with Hirschsprung disease.Semantic proximity Read ↗

Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45.Semantic proximity Read ↗

[New mutations associated with Hirschsprung disease].Semantic proximity Read ↗

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