Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurodegenerative disorders. Numerous genes linked to HSPs, overlapping phenotypes between HSP subtypes and other neurodegenerative disorders and the HSPs’ dual mode of inheritance (both dominant and recessive) make t...

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Detalles Bibliográficos
Autores principales: Elert-Dobkowska, Ewelina, Stepniak, Iwona, Krysa, Wioletta, Ziora-Jakutowicz, Karolina, Rakowicz, Maria, Sobanska, Anna, Pilch, Jacek, Antczak-Marach, Dorota, Zaremba, Jacek, Sulek, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411833/
https://www.ncbi.nlm.nih.gov/pubmed/30778698
http://dx.doi.org/10.1007/s10048-019-00565-6

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