Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene

Autosomal recessive pseudohypoaldosteronism type 1 (PHA1) is a rare disorder characterized by sodium wasting, failure to thrive, hyperkalemia, hypovolemia and metabolic acidosis. It is due to mutations in the amiloride-sensitive epithelial sodium channel (ENaC) and is characterized by diminished res...

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Bibliografiska uppgifter
I publikationen:Endocrinol Diabetes Metab Case Rep
Huvudupphovsmän: Nobel, Yael R, Lodish, Maya B, Raygada, Margarita, Del Rivero, Jaydira, Faucz, Fabio R, Abraham, Smita B, Lyssikatos, Charalampos, Belyavskaya, Elena, Stratakis, Constantine A, Zilbermint, Mihail
Materialtyp: Artigo
Språk:Inglês
Publicerad: Bioscientifica Ltd 2016
Ämnen:
Insight into Disease Pathogenesis or Mechanism of Therapy
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4722246/
https://ncbi.nlm.nih.gov/pubmed/26807262
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-15-0104
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