Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy, Developmental Delay, and Intellectual Disability

Hereditary spastic paraplegias (HSPs) is a rare heterogeneous group of neurodegenerative diseases, with upper and lower limb spasticity motor neuron disintegration leading to paraplegias. NT5C2 gene (OMIM: 600417) encode a hydrolase enzyme 5'-nucleotidase, cytosolic II play an important role in...

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Detalles Bibliográficos
Autores principales: Naseer, Muhammad Imran, Abdulkareem, Angham Abdulrahman, Pushparaj, Peter Natesan, Bibi, Fehmida, Chaudhary, Adeel G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7050623/
https://www.ncbi.nlm.nih.gov/pubmed/32153630
http://dx.doi.org/10.3389/fgene.2020.00014

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7050623/
https://www.ncbi.nlm.nih.gov/pubmed/32153630
http://dx.doi.org/10.3389/fgene.2020.00014

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