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

• Asıl Yazarlar: Ana Perdomo-Ramirez (Yazar), Marian de Armas-Ortiz (Yazar), Elena Ramos-Trujillo (Yazar), Lorena Suarez-Artiles (Yazar), Felix Claverie-Martin (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2019-01-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract 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...