Associated Papers
A novel mutation in CLDN16 results in rare familial hypomagnesaemia with hypercalciuria and nephrocalcinosis in a Chinese family.
Lv F et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Unusual clinical presentation and possible rescue of a novel claudin-16 mutation.
Müller D et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail.
Müller D et al.
Human Molecular Genetics, 2006
Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16.
Kausalya PJ et al.
The Journal of Clinical Investigation, 2006
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