A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people

INTRODUCTION: Romani people have a high prevalence of kidney failure. This study examined a Romani cohort for pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes that are affected in Alport syndrome (AS), a common cause of genetic kidney disease, characterized by hematuria, proteinuria, end-...

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Detalles Bibliográficos
Autores principales: Plevova, Pavlina, Indrakova, Jana, Savige, Judy, Kuhnova, Petra, Tvrda, Petra, Cerna, Dita, Hilscherova, Sarka, Kudrejova, Monika, Polendova, Daniela, Jaklova, Radka, Langova, Martina, Jahnova, Helena, Lastuvkova, Jana, Dusek, Jiri, Gut, Josef, Vlckova, Marketa, Solarova, Pavla, Kreckova, Gabriela, Kantorova, Eva, Soukalova, Jana, Slavkovsky, Rastislav, Zapletalova, Jana, Tichy, Tomas, Thomasova, Dana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9948603/
https://www.ncbi.nlm.nih.gov/pubmed/36844206
http://dx.doi.org/10.3389/fmed.2023.1096869

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