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...

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Détails bibliographiques
Publié dans:Ann Clin Transl Neurol
Auteurs principaux: Wang, David S., Wu, Xingyao, Bai, Yunhong, Zaidman, Craig, Grider, Tiffany, Kamholz, John, Lupski, James R., Connolly, Anne M., Shy, Michael E.
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2017
Sujets:
Research Articles
Accès en ligne: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
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