Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations

BACKGROUND: Familial 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 in CLDN...

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Foilsithe in:BMC Med Genet
Main Authors: Perdomo-Ramirez, Ana, de Armas-Ortiz, Marian, Ramos-Trujillo, Elena, Suarez-Artiles, Lorena, Claverie-Martin, Felix
Formáid: Artigo
Teanga:Inglês
Foilsithe: BioMed Central 2019
Ábhair:
Research Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6325764/
https://ncbi.nlm.nih.gov/pubmed/30621608
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0713-7
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