Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia

Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS, OMIM 616756) is a rare genetic disease caused by biallelic pathogenic variants in the HACE1 gene. Originally, these mutations have been reported to be implicated in tumor predisposition. Nonetheless, via whole exome sequ...

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Detalles Bibliográficos
Autores principales: Kovalskaia, Valeriia A., Zabnenkova, Victoriia V., Petukhova, Marina S., Markova, Zhanna G., Tabakov, Vyacheslav Yu., Ryzhkova, Oxana P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778407/
https://www.ncbi.nlm.nih.gov/pubmed/36553453
http://dx.doi.org/10.3390/genes13122186

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778407/
https://www.ncbi.nlm.nih.gov/pubmed/36553453
http://dx.doi.org/10.3390/genes13122186

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