De novo REEP2 missense mutation in pure hereditary spastic paraplegia

Alterations in proteins that regulate endoplasmic reticulum morphology are common causes of hereditary spastic paraplegia (SPG1‐78, plus others). Mutations in the REEP1 gene that encodes an endoplasmic reticulum‐shaping protein are well‐known causes of SPG31, a common autosomal dominant spastic para...

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Detalles Bibliográficos
Autores principales: Roda, Ricardo H., Schindler, Alice B., Blackstone, Craig
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420804/
https://www.ncbi.nlm.nih.gov/pubmed/28491902
http://dx.doi.org/10.1002/acn3.404

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