Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice

Familial hematuria is a clinical sign of a genetically heterogeneous group of conditions, accompanied by broad inter- and intrafamilial variable expressivity. The most frequent condition is caused by pathogenic (or likely pathogenic) variants in the collagen-IV genes, COL4A3/A4/A5. Pathogenic varian...

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Detalles Bibliográficos
Autores principales: Deltas, Constantinos, Papagregoriou, Gregory, Louka, Stavroula F., Malatras, Apostolos, Flinter, Frances, Gale, Daniel P., Gear, Susie, Gross, Oliver, Hoefele, Julia, Lennon, Rachel, Miner, Jeffrey H., Renieri, Alessandra, Savige, Judy, Turner, A. Neil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530214/
https://www.ncbi.nlm.nih.gov/pubmed/37761826
http://dx.doi.org/10.3390/genes14091686

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530214/
https://www.ncbi.nlm.nih.gov/pubmed/37761826
http://dx.doi.org/10.3390/genes14091686

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