Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
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Genetic causes of hypomagnesemia, a clinical overviewRenal control of calcium, phosphate, and magnesium homeostasisInteractions with the bifunctional interface of the transcriptional coactivator DCoH1 are kinetically regulated.Predicting diabetes mellitus genes via protein-protein interaction and protein subcellular localization information.Inherited disorders of renal hypomagnesaemia.HNF1B-associated clinical phenotypes: the kidney and beyond.Monoamine neurotransmitter disorders--clinical advances and future perspectives.Loss of transcriptional activation of the potassium channel Kir5.1 by HNF1β drives autosomal dominant tubulointerstitial kidney disease.Inherited and acquired disorders of magnesium homeostasis.The complete European guidelines on phenylketonuria: diagnosis and treatment.Genetics of Magnesium Disorders.Diagnostic strategy for inherited hypomagnesemia.Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.Renal Mg handling, FXYD2 and the central role of the Na,K-ATPase
P2860
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P2860
Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
description
2013 nî lūn-bûn
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2013年学术文章
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name
Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
@en
Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
@nl
type
label
Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
@en
Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
@nl
prefLabel
Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
@en
Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
@nl
P2093
P2860
P50
P356
P1476
Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting
@en
P2093
Femke van Zeeland
Johannis B C de Klerk
Joost G J Hoenderop
Leo A J Kluijtmans
Marla Lavrijsen
Patrick Ferreira
René J M Bindels
Roger Germann
P2860
P304
P356
10.1681/ASN.2013040337
P577
2013-11-07T00:00:00Z