Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia

Authors :: Michelle Muller
Eiske M. Dorresteijn
Marinus A. van den Dorpel
Jeroen H. F. de Baaij
Nine V A M Knoers
Joost G. J. Hoenderop
René J. M. Bindels
Eric A. M. Hennekam
Olivier Devuyst
Erik-Jan Kamsteeg
Rowdy Meijer
Karin Dahan
Pediatrics
Hematology
Medical Oncology
University of Zurich
Knoers, Nine V A M
Source :: Nephrology Dialysis Transplantation, 30(6), 952-957. Oxford University Press, Nephrology, Dialysis, Transplantation, 30(6), 952-957. Oxford University Press, Nephrology Dialysis Transplantation, 30(6), 952. Oxford University Press, Nephrology, Dialysis, Transplantation, 30, 952-7, Nephrology, Dialysis, Transplantation, 30, 6, pp. 952-7
Publication Year :: 2015
Abstract: Contains fulltext : 153826.pdf (Publisher’s version ) (Closed access) BACKGROUND: Magnesium (Mg(2+)) is an essential ion for cell growth, neuroplasticity and muscle contraction. Blood Mg(2+) levels

Subjects :: Male
2747 Transplantation
magnesium
medicine.disease_cause
10052 Institute of Physiology
Na+-K+-ATPase
Homeostasis
Non-U.S. Gov't
Genes, Dominant
distal convoluted tubule
Mutation
2727 Nephrology
HYPOKALEMIA
Research Support, Non-U.S. Gov't
Renal Tubular Transport
Hypokalemia
Hypercalciuria/genetics
Pedigree
Nephrocalcinosis
Nephrology
10076 Center for Integrative Human Physiology
Female
Sodium-Potassium-Exchanging ATPase
medicine.symptom
Nephrocalcinosis/genetics
Adult
medicine.medical_specialty
kidney
Sodium-Potassium-Exchanging ATPase/genetics
Renal Tubular Transport, Inborn Errors
NA+,K+-ATPASE GAMMA-SUBUNIT
Mutation/genetics
Hypercalciuria
610 Medicine & health
NA+
Research Support
Hypocalciuria
Hypomagnesemia
K+-ATPASE GAMMA-SUBUNIT
Renal Tubular Transport, Inborn Errors/genetics
Magnesium/blood
Internal medicine
medicine
Journal Article
Humans
Dominant
Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12]
Transplantation
business.industry
RENAL MAGNESIUM LOSS
Haplotype
medicine.disease
Homeostasis/genetics
RAT-KIDNEY
Endocrinology
Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11]
Genes
570 Life sciences
biology
business
FXYD2
Inborn Errors/genetics
Muscle cramp
Founder effect

ISSN :: 09310509
Database :: OpenAIRE
Journal :: Nephrology Dialysis Transplantation, 30(6), 952-957. Oxford University Press, Nephrology, Dialysis, Transplantation, 30(6), 952-957. Oxford University Press, Nephrology Dialysis Transplantation, 30(6), 952. Oxford University Press, Nephrology, Dialysis, Transplantation, 30, 952-7, Nephrology, Dialysis, Transplantation, 30, 6, pp. 952-7
Accession number :: edsair.doi.dedup.....684317e1b7ed13588743c2fb00e0005f

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