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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...

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Detalles Bibliográficos
Autores principales:	Pan, Shujun, Yu, Rizhen, Liang, Shikai
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
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

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