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Peer-reviewedCC BYKidney international reports

Customized MUC1 Sequencing Enables Diagnosis of Autosomal Dominant Tubulointerstitial Kidney Disease and Unexplained CKD

  • José María García-Aznar1
  • María Lara Besada-Cerecedo2
  • Nerea López Aguirre2
  • Jorge Pérez Álvarez3
  • Mireia Boluda-Navarro3
  • Sonia González Alvaredo3
  • Iván Lesende3
  • Laura Castañeda-Infante4
  • Lina León-Machado5
  • Alfredo Santana Rodríguez6
  • Vanessa Pérez-Gómez7
  • Elena Gomá Garces7
10 more authors
  • Alberto Ortiz7
  • Gema Fernández Fresnedo8
  • Mercedes Cao Vilarino9
  • Elisabet Ars Criach10
  • Jose Carlos Prado de la Sierra11
  • Rosa María Escaño Marín11
  • Mónica Martín Velázquez11
  • Miquel Blasco12
  • Fabio L. Procaccini13
  • Patricia de Sequera13
13 affiliations
  1. 1Clinical Area of Nephrology and Immunology, Health in Code, A Coruña, Spain
  2. 2Genetic Diagnostic Department, Health in Code, A Coruña, Spain
  3. 3Research and Development Department, Health in Code, Valencia, Spain
  4. 4Department of Nephrology, Clínica Universitaria de Navarra. Pamplona, Spain
  5. 5Department of Nephrology, University Hospital La Paz, Madrid, Spain
  6. 6Clinical Genetics Unit, Complejo Hospitalario Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain
  7. 7Department of Nephrology, IIS-Fundación Jiménez Díaz University Hospital, Madrid, Spain
  8. 8Department of Nephrology, University Hospital Marqués de Valdecilla-IDIVAL, Santander, Spain
  9. 9Department of Nephrology, University Hospital of A Coruña, A Coruña, Spain
  10. 10Molecular Genetics Laboratory, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), Barcelona, Spain, ERKNet Reference Center, RICORS2040renal
  11. 11Department of Nephrology, University Hospital Virgen de la Victoria. Málaga, Spain
  12. 12Department of Nephrology and Kidney Transplant, National Reference Center for Complex Glomerular Diseases (CSUR), Fundació de Recerca Clínic Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Hospital Clínic Barcelona, Barcelona University, Barcelona, Spain
  13. 13Department of Nephrology, University Hospital Infanta Leonor, Madrid, Spain
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Cite

BibTeXRIS
BibTeX
@article{garciaaznar2026customized,
  title = {{Customized MUC1 Sequencing Enables Diagnosis of Autosomal Dominant Tubulointerstitial Kidney Disease and Unexplained CKD}},
  author = {José María García-Aznar and María Lara Besada-Cerecedo and Nerea López Aguirre and Jorge Pérez Álvarez and Mireia Boluda-Navarro and Sonia González Alvaredo and Iván Lesende and Laura Castañeda-Infante and Lina León-Machado and Alfredo Santana Rodríguez and Vanessa Pérez-Gómez and Elena Gomá Garces and Alberto Ortiz and Gema Fernández Fresnedo and Mercedes Cao Vilarino and Elisabet Ars Criach and Jose Carlos Prado de la Sierra and Rosa María Escaño Marín and Mónica Martín Velázquez and Miquel Blasco and Fabio L. Procaccini and Patricia de Sequera},
  journal = {Kidney international reports},
  year = {2026},
  month = sep,
  url = {https://europepmc.org/article/PMC/PMC13720252},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Customized MUC1 Sequencing Enables Diagnosis of Autosomal Dominant Tubulointerstitial Kidney Disease and Unexplained CKD
AU  - José María García-Aznar
AU  - María Lara Besada-Cerecedo
AU  - Nerea López Aguirre
AU  - Jorge Pérez Álvarez
AU  - Mireia Boluda-Navarro
AU  - Sonia González Alvaredo
AU  - Iván Lesende
AU  - Laura Castañeda-Infante
AU  - Lina León-Machado
AU  - Alfredo Santana Rodríguez
AU  - Vanessa Pérez-Gómez
AU  - Elena Gomá Garces
AU  - Alberto Ortiz
AU  - Gema Fernández Fresnedo
AU  - Mercedes Cao Vilarino
AU  - Elisabet Ars Criach
AU  - Jose Carlos Prado de la Sierra
AU  - Rosa María Escaño Marín
AU  - Mónica Martín Velázquez
AU  - Miquel Blasco
AU  - Fabio L. Procaccini
AU  - Patricia de Sequera
PY  - 2026
DA  - 2026/09/25
JO  - Kidney international reports
UR  - https://europepmc.org/article/PMC/PMC13720252
SN  - 2468-0249
ER  -