Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review.
Han Y et al.
Frontiers in Pediatrics, 2022
Kinase and channel activity of TRPM6 are co-ordinated by a dimerization motif and pocket interaction.
van der Wijst J et al.
The Biochemical Journal, 2014
TRPM6 and TRPM7--Gatekeepers of human magnesium metabolism.
Schlingmann KP et al.
Biochimica Et Biophysica Acta, 2007
Genetic background of HSH in three Polish families and a patient with an X;9 translocation.
Jalkanen R et al.
European Journal of Human Genetics : Ejhg, 2006
Case of hypomagnesemia with secondary hypocalcemia with a novel TRPM6 mutation.
Lal N et al.
Neurology India, 0
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