A new family with spastic paraplegia type 51 and novel mutations in AP4E1

BACKGROUND: Autosomal recessive mutations in the AP-4 (adaptor protein complex 4) complex subunit ϵ − 1 (AP-4E1) gene on chromosome 15q21.2 are known to cause spastic paraplegia 51 (SPG51). The exact phenotype of SPG51 remains poorly characterized, because only a few families have been reported as c...

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Detalles Bibliográficos
Autores principales: Winkler, Izabela, Miotła, Paweł, Lejman, Monika, Pietrzyk, Aleksandra, Kacprzak, Magdalena, Kubiak, Marcin, Sobczyńska-Tomaszewska, Agnieszka, Skrzypczak, Maciej, Jaszczuk, Ilona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8130362/
https://www.ncbi.nlm.nih.gov/pubmed/34006278
http://dx.doi.org/10.1186/s12920-021-00980-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8130362/
https://www.ncbi.nlm.nih.gov/pubmed/34006278
http://dx.doi.org/10.1186/s12920-021-00980-5

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