Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis

Title
Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Authors
Keywords
CLDN16, CLDN19, Hypomagnesemia, Hypercalciuria, Nephrocalcinosis, Mutation, Minigene, Pre-mRNA splicing, Exon skipping, Claudin
Journal
GENE
Volume 689, Issue -, Pages 227-234
Publisher
Elsevier BV
Online
2018-12-19
DOI
10.1016/j.gene.2018.12.024

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