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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Dades bibliogràfiques
Publicat a:Kidney Int Rep
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2019
Matèries:
Clinical Research
Accés en línia: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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