HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting

Mutations in hepatocyte nuclear factor 1B (HNF1B), which is a transcription factor expressed in tissues including renal epithelia, associate with abnormal renal development. While studying renal phenotypes of children with HNF1B mutations, we identified a teenager who presented with tetany and hypom...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Adalat, Shazia, Woolf, Adrian S., Johnstone, Karen A., Wirsing, Andrea, Harries, Lorna W., Long, David A., Hennekam, Raoul C., Ledermann, Sarah E., Rees, Lesley, van't Hoff, William, Marks, Stephen D., Trompeter, Richard S., Tullus, Kjell, Winyard, Paul J., Cansick, Janette, Mushtaq, Imran, Dhillon, Harjeeta K., Bingham, Coralie, Edghill, Emma L., Shroff, Rukshana, Stanescu, Horia, Ryffel, Gerhart U., Ellard, Sian, Bockenhauer, Detlef
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2009
Assuntos:
Clinical Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2678044/
https://ncbi.nlm.nih.gov/pubmed/19389850
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2008060633
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados