Showing 1 - 2 results of 2 for search 'Carmen Jane Trujillo-Frías', query time: 0.02s Refine Results
  1. 1
    Characterization of pre-mRNA Splicing Defects Caused by <i>CLCN5</i> and <i>OCRL</i> Mutations and Identification of Novel Variants Associated with Dent Disease

    Characterization of pre-mRNA Splicing Defects Caused by <i>CLCN5</i> and <i>OCRL</i> Mutations and Identification of Novel Variants Associated with Dent Disease by Glorián Mura-Escorche, Ana Perdomo-Ramírez, Elena Ramos-Trujillo, Carmen Jane Trujillo-Frías, Félix Claverie-Martín

    Published 2023-11-01
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  2. 2
    Pathogenic Variants of <i>SLC22A12</i> (URAT1) and <i>SLC2A9</i> (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of <i>SLC2A9</i> Variant c.374C>T; p.(T125M)

    Pathogenic Variants of <i>SLC22A12</i> (URAT1) and <i>SLC2A9</i> (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of <i>SLC2A9</i> Variant c.374C>T; p.(T125M) by Ana Perdomo-Ramirez, Elizabeth Cordoba-Lanus, Carmen Jane Trujillo-Frias, Carolina Gonzalez-Navasa, Elena Ramos-Trujillo, Maria Isabel Luis-Yanes, Victor Garcia-Nieto, Felix Claverie-Martin

    Published 2023-05-01
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