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Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees
Rare neurological diseases shed light onto universal neurobiological processes. However, molecular mechanisms connecting genetic defects to their disease phenotypes are elusive. Here, we obtain mechanistic information by comparing proteomes of cells from individuals with rare disorders with proteome...
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| 出版年: | Cell Syst |
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| 主要な著者: | , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5876136/ https://ncbi.nlm.nih.gov/pubmed/29397366 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cels.2018.01.008 |
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