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Genome mining yields putative disease-associated ROMK variants with distinct defects

Bartter syndrome is a group of rare genetic disorders that compromise kidney function by impairing electrolyte reabsorption. Left untreated, the resulting hyponatremia, hypokalemia, and dehydration can be fatal, and there is currently no cure. Bartter syndrome type II specifically arises from mutati...

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Detalles Bibliográficos
Autores principales:	Nguyen, Nga H., Sarangi, Srikant, McChesney, Erin M., Sheng, Shaohu, Durrant, Jacob D., Porter, Aidan W., Kleyman, Thomas R., Pitluk, Zachary W., Brodsky, Jeffrey L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2023
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10695394/ https://www.ncbi.nlm.nih.gov/pubmed/37956218 http://dx.doi.org/10.1371/journal.pgen.1011051

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