Publicaciones en colaboración con investigadores/as de Hospital Universitario de Cruces (3)

2020

  1. Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

    Molecular Genetics and Genomic Medicine, Vol. 8, Núm. 11

2019

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

    Gene, Vol. 689, pp. 227-234

2007

  1. Molecular analysis of the CLCN5 gene in Dent's disease: First mutation identified in a patient from South America

    Clinical Nephrology, Vol. 68, Núm. 6, pp. 367-372