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De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
Brain. 2016 Jun;139(Pt 6):1649-56. doi: 10.1093/brain/aww055. Epub 2016 Mar 23.
Brain. 2016.
PMID: 27009151
Free PMC article.
Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.
Punetha J, Mackay-Loder L, Harel T, Coban-Akdemir Z, Jhangiani SN, Gibbs RA, Lee I, Terespolsky D, Lupski JR, Posey JE.
Punetha J, et al.
Mol Genet Metab. 2018 Nov;125(3):302-304. doi: 10.1016/j.ymgme.2018.08.005. Epub 2018 Aug 24.
Mol Genet Metab. 2018.
PMID: 30249361
Free PMC article.
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