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Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 Families
RATIONALE & OBJECTIVE: Mono-allelic variants in COL4A3 and COL4A4 (COL4A3/COL4A4) have been identified in a spectrum of glomerular basement membrane nephropathies, including thin basement membrane nephropathy and autosomal dominant Alport syndrome. With the increasing use of next generation sequ...
Autores principales: | Groen in ’t Woud, Sander, Rood, Ilse M., Steenbergen, Eric, Willemsen, Brigith, Dijkman, Henry B., van Geel, Michel, Schoots, Jeroen, Wetzels, Jack F.M., Lugtenberg, Dorien, Deegens, Jeroen K.J., Bongers, Ernie M.H.F. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10011433/ https://www.ncbi.nlm.nih.gov/pubmed/36925663 http://dx.doi.org/10.1016/j.xkme.2023.100607 |
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