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...

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Detalles Bibliográficos
Autores principales: Ortiz-Ortigosa, Ana, Calvo-Medina, Rocío, Ruiz-García, César, Vera-Medialdea, Rafael, Ramos-Fernández, José M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: EVIDENZE 2023
Materias:
Nota Clínica
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

Internet

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

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