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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Detalles Bibliográficos
Autores principales: Marchesin, Valentina, Pérez-Martí, Albert, Le Meur, Gwenn, Pichler, Roman, Grand, Kelli, Klootwijk, Enriko D., Kesselheim, Anne, Kleta, Robert, Lienkamp, Soeren, Simons, Matias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cell Press 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6941224/
https://www.ncbi.nlm.nih.gov/pubmed/31875549
http://dx.doi.org/10.1016/j.celrep.2019.11.066

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