Article

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia

medRxiv · 2019 · Huppke, P.; Wegener, E.; Gilley, J.; Angeletti, C.; Kurth, I.; Drenth, J. P. H.; Stadelmann, C.; Barrantes-Freer, A.; Brück, W.; Thiele, H.; Nürnberg, P.; Gärtner, J.; Orsomando, G.; Coleman, M.

Key facts

Title Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia
First author Huppke, P.; Wegener, E.; Gilley, J.; Angeletti, C.; Kurth, I.; Drenth, J. P. H.; Stadelmann, C.; Barrantes-Freer, A.; Brück, W.; Thiele, H.; Nürnberg, P.; Gärtner, J.; Orsomando, G.; Coleman, M.
Journal medRxiv
Published Apr 17, 2019
DOI 10.1101/610907
Devices mentioned BK110039, K062324, K103302, K163699
Product codes mentioned KIT, LXG, NDS, NJT, OOI, PFT, MHX, PCA

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  • 1–9 FDA submissions mentioned
  • 1–9 Product codes mentioned

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