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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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Dades bibliogràfiques
Publicat a:Ann Clin Transl Neurol
Autors principals: Roda, Ricardo H., Schindler, Alice B., Blackstone, Craig
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2017
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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