Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients

Background: KIF1A (kinesin family member 1A)-related disorders encompass a variety of diseases. KIF1A variants are responsible for autosomal recessive and dominant spastic paraplegia 30 (SPG, OMIM610357), autosomal recessive hereditary sensory and autonomic neuropathy type 2 (HSN2C, OMIM614213), and...

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Detalles Bibliográficos
Autores principales: Paprocka, Justyna, Jezela-Stanek, Aleksandra, Śmigiel, Robert, Walczak, Anna, Mierzewska, Hanna, Kutkowska-Kaźmierczak, Anna, Płoski, Rafał, Emich-Widera, Ewa, Steinborn, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10217861/
https://www.ncbi.nlm.nih.gov/pubmed/37239332
http://dx.doi.org/10.3390/genes14050972

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10217861/
https://www.ncbi.nlm.nih.gov/pubmed/37239332
http://dx.doi.org/10.3390/genes14050972

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