Prevalence and parental origin of de novo RET mutations in Hirschsprung's disease.

doi:10.1159/000472232

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Article

Prevalence and parental origin of de novo RET mutations in Hirschsprung's disease.

European journal of human genetics : EJHG - 1 Jan 1996

Yin L, Seri M, Barone V, Tocco T, Scaranari M, Romeo G

Abstract excerpt

In contrast with the reported almost exclusive paternal origin of de novo mutations in MEN 2A, FMTC and MEN 2B, de novo mutations in Hirschsprung patients arise both on paternal and maternal chromosomes. This distinctive feature of RET mutations associated with Hirschsprung's disease and of the R...

Topics

DNA Mutational Analysis
Drosophila Proteins
Female
Genomic Imprinting
Hirschsprung Disease
Humans
Male
Mutation
Prevalence
Proto-Oncogene Proteins
Proto-Oncogene Proteins c-ret
Receptor Protein-Tyrosine Kinases

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