COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype

COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype

Introduction: Pathogenic variants in COL4A3–5 are common causes of inherited kidney disease. The clinical presentation extends from classical Alport syndrome (AS) to focal segmental glomerulosclerosis (FSGS) without extrarenal manifestation. In this study, we aimed to assess the genetic and phenotyp...

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Main Authors: Bastian M. Krüger, Annika Jens, Anna Neuhaus, Jasmina Ćomić, Riccardo Berutti, Jonathan de Fallois, Friederike Petzold, Johannes Münch, Jan Kowald, Tom H. Lindner, Klemens Budde, Klara K. Brüning, Julia Thumfart, Jacob Haas, Carolin B. Brigl, Kerstin Amann, Velibor Tasic, Nora Abazi-Emini, Valbona Nushi-Stavileci, Jovana Putnik, Nataša Stajić, Evelyn Seelow, Charlotte Hammett, Kai-Uwe Eckardt, Korbinian M. Riedhammer, Eva V. Schrezenmeier, Julia Hoefele, Jan Halbritter
Format: Article
Language:English
Published: Elsevier 2025-05-01
Series:Kidney International Reports
Subjects:
alport syndrome
chronic kidney disease
collagen type IV
COL4A3
COL4A4
COL4A5
Online Access:http://www.sciencedirect.com/science/article/pii/S2468024925001214
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