HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood

BACKGROUND: Mutations in the transcription factor hepatocyte nuclear factor 1B (HNF1B) are the most common inherited cause of renal malformations, yet also associated with renal tubular dysfunction, most prominently magnesium wasting with hypomagnesemia. The presence of hypomagnesemia has been propo...

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Detalhes bibliográficos
Publicado no:Kidney Int Rep
Main Authors: Adalat, Shazia, Hayes, Wesley N., Bryant, William A., Booth, John, Woolf, Adrian S., Kleta, Robert, Subtil, Sandra, Clissold, Rhian, Colclough, Kevin, Ellard, Sian, Bockenhauer, Detlef
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
Assuntos:
Clinical Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6732753/
https://ncbi.nlm.nih.gov/pubmed/31517149
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ekir.2019.05.019
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