Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome

INTRODUCTION: Alport syndrome (AS) is an inherited disorder characterized by hematuria, proteinuria, and kidney function impairment, and frequently associated with extrarenal manifestations. Pathogenic variants in COL4A5 usually cause X-linked Alport syndrome (XLAS), whereas those in the COL4A3 or C...

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Detalles Bibliográficos
Autores principales: Cerkauskaite, Agne, Savige, Judy, Janonyte, Karolina, Jeremiciute, Ieva, Miglinas, Marius, Kazenaite, Edita, Laurinavicius, Arvydas, Strupaite-Sileikiene, Rasa, Vainutiene, Vija, Burnyte, Birute, Jankauskiene, Augustina, Rolfs, Arndt, Bauer, Peter, Schröder, Sabine, Cerkauskiene, Rimante
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8995700/
https://www.ncbi.nlm.nih.gov/pubmed/35419377
http://dx.doi.org/10.3389/fmed.2022.859521

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