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HSAN-VI: A spectrum disorder based on dystonin isoform expression
Hereditary sensory and autonomic neuropathy (HSAN-VI) is a recessive genetic disorder that arises because of mutations in the human dystonin gene (DST, previously known as bullous pemphigoid antigen 1). Although initial characterization of HSAN-VI reported it as a sensory neuropathy that was lethal...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Wolters Kluwer
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975176/ https://www.ncbi.nlm.nih.gov/pubmed/32042917 http://dx.doi.org/10.1212/NXG.0000000000000389 |