A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy).

Autor: Grosz, Bianca R.1,2 bgro4046@uni.sydney.edu.au, Golovchenko, Natasha B.3, Ellis, Melina1, Kumar, Kishore2,4,5, Nicholson, Garth A.1,2,4,5, Antonellis, Anthony3,6, Kennerson, Marina L.1,2,4 marina.kennerson@sydney.edu.au
Zdroj: Scientific Reports. 12/18/2019, Vol. 9 Issue 1, p1-8. 8p.
Databáze: Academic Search Ultimate
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