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Enfermedad neurológica asociada al gen KIF1A: correlación genotipo/fenotipo
INTRODUCTION. KIF1A-associated-neurological-disorder (KAND) encephalopathy is a group of progressive neurodegenerative pathologies of varying severity caused by mutations in the KIF1A gene (Kinesin family member 1A) located on chromosome 2q37.3. This gene encodes a protein of the kinesin-3 family th...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
EVIDENZE
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10662185/ https://www.ncbi.nlm.nih.gov/pubmed/37668235 http://dx.doi.org/10.33588/rn.7706.2023185 |