Title: | PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E |
Journal : | Annals of clinical and translational neurology, 4, 4 |
Authors: | Wang DS, Author ; Wu X ; Bai Y ; Zaidman C ; Grider T ; Kamholz J ; Lupski JR ; Connolly AM ; Shy ME |
Material Type: | Article |
Publication Date: | 2017 |
Size: | p 236 |
Languages: | English |
Keywords : | case studies ; CMT1E ; endoplasmic reticulum ; genetic deletions ; intracellular transport ; myelin protein 22 ; PMP22 gene ; RT-PCR |
Pubmed / DOI : | DOI : 10.1002/acn3.395 / Pubmed : 28382305 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28382305 |