Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece

Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece

Alport syndrome (AS) is the most frequent monogenic inherited glomerulopathy and is also genetically and clinically heterogeneous. It is caused by semi-dominant pathogenic variants in the X-linked <i>COL4A5</i> (NM_000495.5) gene or recessive variants in the <i>COL4A3</i>/<...

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Bibliographic Details
Main Authors: Despina Hadjipanagi, Gregory Papagregoriou, Constantina Koutsofti, Christiana Polydorou, Polichronis Alivanis, Aimilios Andrikos, Stalo Christodoulidou, Manthos Dardamanis, Athanasios A. Diamantopoulos, Anastasios Fountoglou, Eleni Frangou, Eleni Georgaki, Ioannis Giannikouris, Velissarios Gkinis, Pavlos C. Goudas, Rigas G. Kalaitzidis, Nikolaos Kaperonis, Georgios Koutroumpas, George Makrydimas, Grigorios Myserlis, Andromachi Mitsioni, Christos Paliouras, Fotios Papachristou, Dorothea Papadopoulou, Nikolaos Papagalanis, Aikaterini Papagianni, Garyfalia Perysinaki, Ekaterini Siomou, Konstantinos Sombolos, Ioannis Tzanakis, Georgios V. Vergoulas, Nicoletta Printza, Constantinos Deltas
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:Genes
Subjects:
Alport syndrome
glomerular basement membrane
Collagen IV
<i>COL4A5</i>
founder mutation
pathogenic variant
Online Access:https://www.mdpi.com/2073-4425/13/12/2203

Internet

https://www.mdpi.com/2073-4425/13/12/2203

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