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Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A
HNF4A is a nuclear hormone receptor that binds DNA as an obligate homodimer. While all known human heterozygous mutations are associated with the autosomal-dominant diabetes form MODY1, one particular mutation (p.R85W) in the DNA-binding domain (DBD) causes additional renal Fanconi syndrome (FRTS)....
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| 發表在: | Cell Rep |
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| Main Authors: | , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Cell Press
2019
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6941224/ https://ncbi.nlm.nih.gov/pubmed/31875549 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.celrep.2019.11.066 |
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