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

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

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...

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Bibliographic Details
Main Authors: Ana Perdomo-Ramirez, Marian de Armas-Ortiz, Elena Ramos-Trujillo, Lorena Suarez-Artiles, Felix Claverie-Martin
Format: Article
Language:English
Published: BMC 2019-01-01
Series:BMC Medical Genetics
Subjects:
Missense mutation
Pre-mRNA splicing
Exonic splicing enhancer
Minigene
Splicing defects
Bioinformatics analysis
Online Access:http://link.springer.com/article/10.1186/s12881-018-0713-7

Internet

http://link.springer.com/article/10.1186/s12881-018-0713-7

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