New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions

por Perdomo-Ramírez, Ana, Ramos-Trujillo, Elena, Claverie-Martín, Félix
Publicado 2023

Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease

por Suarez-Artiles, Lorena, Perdomo-Ramirez, Ana, Ramos-Trujillo, Elena, Claverie-Martin, Felix
Publicado 2018

Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease

por Mura-Escorche, Glorián, Perdomo-Ramírez, Ana, Ramos-Trujillo, Elena, Trujillo-Frías, Carmen Jane, Claverie-Martín, Félix
Publicado 2023

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

por Perdomo-Ramirez, Ana, de Armas-Ortiz, Marian, Ramos-Trujillo, Elena, Suarez-Artiles, Lorena, Claverie-Martin, Felix
Publicado 2019

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

por García‐Castaño, Alejandro, Perdomo‐Ramirez, Ana, Vall‐Palomar, Mònica, Ramos‐Trujillo, Elena, Madariaga, Leire, Ariceta, Gema, Claverie‐Martin, Felix
Publicado 2020

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

por Perdomo-Ramirez, Ana, Cordoba-Lanus, Elizabeth, Trujillo-Frias, Carmen Jane, Gonzalez-Navasa, Carolina, Ramos-Trujillo, Elena, Luis-Yanes, Maria Isabel, Garcia-Nieto, Victor, Claverie-Martin, Felix
Publicado 2023