HINT1 neuropathy in Norway: clinical, genetic and functional profiling.

Silvia Amor-Barris Helle Høyer Lin V Brauteset Els De Vriendt Linda Strand Albena Jordanova Geir J Braathen Kristien Peeters

Published in: Orphanet journal of rare diseases (2021)

Our findings broaden the genetic epidemiology of HINT1-neuropathy and have implications for molecular diagnostics of inherited peripheral neuropathies in Scandinavia.

Keyphrases

genome wide
copy number
risk factors
single cell
dna methylation
gene expression
chemotherapy induced