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Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.
de Baaij, Jeroen H F; Dorresteijn, Eiske M; Hennekam, Eric A M; Kamsteeg, Erik-Jan; Meijer, Rowdy; Dahan, Karin; Muller, Michelle; van den Dorpel, Marinus A; Bindels, René J M; Hoenderop, Joost G J; Devuyst, Olivier; Knoers, Nine V A M.
Afiliación
  • de Baaij JH; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Dorresteijn EM; Pediatric Nephrology, Erasmus MC, Sophia Childrens Hospital, Rotterdam, The Netherlands.
  • Hennekam EA; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht 3508 AB, The Netherlands.
  • Kamsteeg EJ; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Meijer R; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Dahan K; Institut de Génétique et de Pathologie, IPG, Gosselies, Belgium.
  • Muller M; Centre Hospitalier Peltzer-La Tourelle, Verviers, Belgium.
  • van den Dorpel MA; Department of Internal Medicine, Maasstad Hospital, Rotterdam, The Netherlands.
  • Bindels RJ; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hoenderop JG; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Devuyst O; Institute of Physiology, ZIHP, University of Zurich, Zürich, Switzerland.
  • Knoers NV; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht 3508 AB, The Netherlands.
Nephrol Dial Transplant ; 30(6): 952-7, 2015 Jun.
Article en En | MEDLINE | ID: mdl-25765846
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Defectos Congénitos del Transporte Tubular Renal / ATPasa Intercambiadora de Sodio-Potasio / Hipercalciuria / Magnesio / Mutación / Nefrocalcinosis Límite: Adult / Female / Humans / Male Idioma: En Revista: Nephrol Dial Transplant Asunto de la revista: NEFROLOGIA / TRANSPLANTE Año: 2015 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Defectos Congénitos del Transporte Tubular Renal / ATPasa Intercambiadora de Sodio-Potasio / Hipercalciuria / Magnesio / Mutación / Nefrocalcinosis Límite: Adult / Female / Humans / Male Idioma: En Revista: Nephrol Dial Transplant Asunto de la revista: NEFROLOGIA / TRANSPLANTE Año: 2015 Tipo del documento: Article País de afiliación: Países Bajos