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Defining functional classes of Barth syndrome mutation in humans
The X-linked disease Barth syndrome (BTHS) is caused by mutations in TAZ; TAZ is the main determinant of the final acyl chain composition of the mitochondrial-specific phospholipid, cardiolipin. To date, a detailed characterization of endogenous TAZ has only been performed in yeast. Further, why a g...
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| 發表在: | Hum Mol Genet |
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| Main Authors: | , , , , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Oxford University Press
2016
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4986330/ https://ncbi.nlm.nih.gov/pubmed/26908608 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw046 |
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