Caricamento...
PMP22 exon 4 deletion causes ER retention of PMP22 and a gain‐of‐function allele in CMT1E
OBJECTIVE: To determine whether predicted fork stalling and template switching (FoSTeS) during mitosis deletes exon 4 in peripheral myelin protein 22 KD (PMP22) and causes gain‐of‐function mutation associated with peripheral neuropathy in a family with Charcot–Marie–Tooth disease type 1E. METHODS: T...
Salvato in:
| Pubblicato in: | Ann Clin Transl Neurol |
|---|---|
| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2017
|
| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5376752/ https://ncbi.nlm.nih.gov/pubmed/28382305 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.395 |
| Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !
|