Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease-Reference-Cited by-同舟云学术

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

Published:1999-04 Issue:4 Volume:64 Page:1216-1221
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Auricchio Alberto,Griseri Paola,Carpentieri Maria Luisa,Betsos Nicola,Staiano Annamaria,Tozzi Arturo,Priolo Manuela,Thompson Helen,Bocciardi Renata,Romeo Giovanni,Ballabio Andrea,Ceccherini Isabella

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference42 articles.

1. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease;Amiel;Hum Mol Genet,1996

2. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient;Angrist;Nat Genet,1996

3. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease;Angrist;Hum Mol Genet,1995

4. Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility;Angrist;Genomics,1998

5. Mutations of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease;Attié;Hum Mol Genet,1995

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