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Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.

Auricchio, A; Griseri, P; Carpentieri, ML; Betsos, N; Staiano, A; Tozzi, A; Priolo, M; Thompson, H; Bocciardi, R; Romeo, G; Ballabio, A; Ceccherini, I

Authors

A Auricchio

P Griseri

ML Carpentieri

N Betsos

A Staiano

A Tozzi

M Priolo

R Bocciardi

G Romeo

A Ballabio

I Ceccherini



Citation

Auricchio, A., Griseri, P., Carpentieri, M., Betsos, N., Staiano, A., Tozzi, A., …Ceccherini, I. (1999). Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. American Journal of Human Genetics, 64, 1216-1221. https://doi.org/10.1086/302329

Journal Article Type Article
Publication Date 1999
Deposit Date Oct 17, 2018
Journal American Journal of Human Genetics
Print ISSN 0002-9297
Publisher Cell Press
Volume 64
Pages 1216-1221
DOI https://doi.org/10.1086/302329