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Mutation Analysis of Thin Basement Membrane Nephropathy

Thin basement membrane nephropathy (TBMN) is characterized by the observation of microhematuria and a thin glomerular basement membrane on kidney biopsy specimens. Its main cause is heterozygous mutations of COL4A3 or COL4A4, which also cause late-onset focal segmental glomerulosclerosis (FSGS) or a...

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Detalles Bibliográficos
Autores principales: Hirabayashi, Yosuke, Katayama, Kan, Mori, Mutsuki, Matsuo, Hiroshi, Fujimoto, Mika, Joh, Kensuke, Murata, Tomohiro, Ito, Masaaki, Dohi, Kaoru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9602179/
https://www.ncbi.nlm.nih.gov/pubmed/36292665
http://dx.doi.org/10.3390/genes13101779