Cargando…
First reported case in Ireland of MEN2A due to a rare mutation in exon 8 of the RET oncogene
We present the case of a 30-year-old female who was diagnosed with hereditary phaeochromocytoma secondary to a rare gene mutation in exon 8 of the RET oncogene. This genetic mutation was picked up as part of an extended genetic screen using a method known as next generation sequencing. Detection of...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Bioscientifica Ltd
2013
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922143/ https://www.ncbi.nlm.nih.gov/pubmed/24616773 http://dx.doi.org/10.1530/EDM-13-0044 |