Wird geladen...
Classifying MMR Variants: Time for Revised Nomenclature in Lynch Syndrome
Inactivating germline mutations in DNA mismatch repair (MMR) genes are diagnostic for Lynch syndrome. However, the clinical significance of missense variants is uncertain. A threshold level of compromised MLH1 expression, correlating with greater protein instability and MMR functional defect, has be...
Gespeichert in:
| Hauptverfasser: | , |
|---|---|
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2013
|
| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3854938/ https://ncbi.nlm.nih.gov/pubmed/23532885 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1158/1078-0432.CCR-13-0392 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|