Cargando…
Germline mutation of CHEK2 in neurofibromatosis 1 and 2: Two case reports
RATIONALE: Neurofibromatosis, including type 1 and type 2, is inherited dominant disease that causes serious consequences. The genetic mechanism of these diseases has been described, but germline mutation of checkpoint 2 kinase gene, together with other DNA repair related genes, has not been fully e...
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer Health
2018
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5999503/ https://www.ncbi.nlm.nih.gov/pubmed/29879026 http://dx.doi.org/10.1097/MD.0000000000010894 |