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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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| Publicat a: | Ann Clin Transl Neurol |
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| Autors principals: | , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5420804/ https://ncbi.nlm.nih.gov/pubmed/28491902 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.404 |
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