Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations
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DOI: 10.1186/s12881-018-0713-7
Abstract: BackgroundFamilial hypomagnesaemia with hypercalciuria and nephrocalcinosis type 1 is an autosomal recessive disease characterized by excessive renal magnesium and calcium excretion, bilateral nephrocalcinosis, and progressive chronic renal failure. This rare disease is caused by mutations… read more here.
Keywords: exonic cldn16; nephrocalcinosis; cldn16 mutations; hypercalciuria nephrocalcinosis ... See more keywords