Publications by the researcher in collaboration with Félix Claverie Martín (8)

2023

  1. Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M)

    International Journal of Molecular Sciences, Vol. 24, Núm. 9

2022

  1. Gout associated with reduced renal excretion of uric acid. Renal tubular disorder that nephrologists do not treat

    Nefrologia, Vol. 42, Núm. 3, pp. 273-279

2020

  1. Considerations about the molecular basis of some kidney tubule disorders in relation to inbreeding and population displacement

    Nefrologia, Vol. 40, Núm. 2, pp. 126-132

2018

  1. URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia

    Clinica Chimica Acta, Vol. 481, pp. 83-89

2016

  1. Prevalence of URAT1 allelic variants in the Roma population

    Nucleosides, Nucleotides and Nucleic Acids, Vol. 35, Núm. 10-12, pp. 529-535

2015

  1. Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

    World Journal of Pediatrics, Vol. 11, Núm. 3, pp. 272-275

2013

  1. Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

    PLoS ONE, Vol. 8, Núm. 1

  2. Dent’s disease: Identification of seven new pathogenic mutations in the CLCN5 gene

    Journal of Pediatric Genetics, Vol. 2, Núm. 3, pp. 133-140