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Case report: A case report of Alport syndrome caused by a novel mutation of COL4A5
Alport syndrome (#308940) is an X-linked genetic disease with clinical manifestations, such as hematuria, proteinuria, renal insufficiency, and end-stage renal disease. The disease is characterized by the thinning of the glomerular basement membrane in the early stages and the thickening of the glom...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10389043/ https://www.ncbi.nlm.nih.gov/pubmed/37529776 http://dx.doi.org/10.3389/fgene.2023.1216809 |