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Changes in protein function underlie the disease spectrum in patients with CHIP mutations
Monogenetic disorders that cause cerebellar ataxia are characterized by defects in gait and atrophy of the cerebellum; however, patients often suffer from a spectrum of disease, complicating treatment options. Spinocerebellar ataxia autosomal recessive 16 (SCAR16) is caused by coding mutations in ST...
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| Publicat a: | J Biol Chem |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Biochemistry and Molecular Biology
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6916485/ https://ncbi.nlm.nih.gov/pubmed/31619515 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA119.011173 |
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