Caricamento...

HINT1 neuropathy in Norway: clinical, genetic and functional profiling

BACKGROUND: Autosomal recessive axonal neuropathy with neuromyotonia has been linked to loss of functional HINT1. The disease is particularly prevalent in Central and South-East Europe, Turkey and Russia due to the high carrier frequency of the c.110G > C (p.Arg37Pro) founder variant. RESULTS: In...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Orphanet J Rare Dis
Autori principali: Amor-Barris, Silvia, Høyer, Helle, Brauteset, Lin V., De Vriendt, Els, Strand, Linda, Jordanova, Albena, Braathen, Geir J., Peeters, Kristien
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2021
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7934415/
https://ncbi.nlm.nih.gov/pubmed/33663550
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01746-z
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !