A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis

Mutations in genes involved in lipid metabolism have increasingly been associated with various subtypes of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative motor neuron disorders characterized by spastic paraparesis. Here, we report an unusual autosomal recessive neur...

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Detalles Bibliográficos
Autores principales: Ahmed, Mustafa Y, Al-Khayat, Aisha, Al-Murshedi, Fathiya, Al-Futaisi, Amna, Chioza, Barry A, Pedro Fernandez-Murray, J, Self, Jay E, Salter, Claire G, Harlalka, Gaurav V, Rawlins, Lettie E, Al-Zuhaibi, Sana, Al-Azri, Faisal, Al-Rashdi, Fatma, Cazenave-Gassiot, Amaury, Wenk, Markus R, Al-Salmi, Fatema, Patton, Michael A, Silver, David L, Baple, Emma L, McMaster, Christopher R, Crosby, Andrew H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382949/
https://www.ncbi.nlm.nih.gov/pubmed/28052917
http://dx.doi.org/10.1093/brain/aww318

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