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Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy.

Paulius PalaimaTeodora ChamovaSebastian JanderVanyo MitevChristine Van BroeckhovenIvailo TournevKristien PeetersAlbena Jordanova
Published in: Orphanet journal of rare diseases (2019)
We expand the genetic and phenotypic spectrum of PMP2-related peripheral neuropathy. Our findings reveal a second mutational cluster in the protein.
Keyphrases
  • genome wide
  • protein protein
  • amino acid
  • binding protein
  • gene expression
  • small molecule
  • dna methylation
  • copy number