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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...
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| Publicado en: | Orphanet J Rare Dis |
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| Autores principales: | , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BioMed Central
2021
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| Materias: | |
| Acceso en línea: | 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 |
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