A Auricchio
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
P Griseri
ML Carpentieri
N Betsos
A Staiano
A Tozzi
M Priolo
Dr Helen Thompson helen.l.thompson@durham.ac.uk
Assistant Professor
R Bocciardi
G Romeo
A Ballabio
I Ceccherini
Citation
Auricchio, A., Griseri, P., Carpentieri, M., Betsos, N., Staiano, A., Tozzi, A., Priolo, M., Thompson, H., Bocciardi, R., Romeo, G., Ballabio, 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 |
| Public URL | https://durham-repository.worktribe.com/output/1311314 |
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