A case of mild phenotype Alport syndrome caused by COL4A3 mutations

In a case of 41-year-old man with mild nephropathy, Alport syndrome (AS) was diagnosed from the renal biopsy. However, the α5 chain of type IV collagen expressed in the glomerular basement membrane, which was the atypical staining pattern of AS. Genetic testing suggested autosomal recessive AS from...

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Veröffentlicht in:	CEN case reports 2017-11, Vol.6 (2), p.189-193
Hauptverfasser:	Kamijo, Masafumi, Kitamura, Mineaki, Muta, Kumiko, Uramatsu, Tadashi, Obata, Yoko, Nozu, Kandai, Kaito, Hiroshi, Iijima, Kazumoto, Mukae, Hiroshi, Nishino, Tomoya
Format:	Artikel
Sprache:	eng
Schlagworte:	Case Report Medicine Medicine & Public Health Nephrology Urology
Online-Zugang:	Volltext
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