PMP22exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E
نویسندگان
چکیده
منابع مشابه
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 Two siblings previously reported to have genomic rearrangements predicted to involve exon 4 of PMP...
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ژورنال
عنوان ژورنال: Annals of Clinical and Translational Neurology
سال: 2017
ISSN: 2328-9503
DOI: 10.1002/acn3.395