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PMP22 exon 4 deletion causes ER retention of PMP22 and a gain‐of‐function allele in CMT1E

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1 Published in 2017 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.395

Abstract: 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… read more here.

Keywords: pmp22; deletion causes; gain function; exon deletion ... See more keywords