Cargando…
Intrafamilial Phenotypic Variability Associated with the I1739V Mutation in the SCN9A Gene
The SCN9A gene encodes a voltage gated sodium channel Nav1.7 in which mutations can result in a wide variety of phenotypes ranging from congenital insensitivity to pain to small fiber neuropathy. We report the genotype phenotype analysis in a family carrying a specific mutation, I1739V, in the SCN9A...
| Autores principales: | , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
S. Karger AG
2021
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251454/ https://www.ncbi.nlm.nih.gov/pubmed/35949357 http://dx.doi.org/10.1159/000513561 |