New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia

@article{Lanez2014NewTM,
  title={New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia},
  author={Sergio La{\'i}nez and Karl Peter Schlingmann and Jenny van der Wijst and B. Dworniczak and Femke van Zeeland and Martin Konrad and Ren{\'e} J M Bindels and Joost G. J. Hoenderop},
  journal={European Journal of Human Genetics},
  year={2014},
  volume={22},
  pages={497-504}
}
Despite recent progress in our understanding of renal magnesium (Mg2+) handling, the molecular mechanisms accounting for transepithelial Mg2+ transport are still poorly understood. Mutations in the TRPM6 gene, encoding the epithelial Mg2+ channel TRPM6 (transient receptor potential melastatin 6), have been proven to be the molecular cause of hypomagnesemia with secondary hypocalcemia (HSH; OMIM 602014). HSH manifests in the newborn period being characterized by very low serum Mg2+ levels (<0.4… CONTINUE READING

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