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 CO...

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Huvudupphov:	Agne Cerkauskaite, Judy Savige, Karolina Janonyte, Ieva Jeremiciute, Marius Miglinas, Edita Kazenaite, Arvydas Laurinavicius, Rasa Strupaite-Sileikiene, Vija Vainutiene, Birute Burnyte, Augustina Jankauskiene, Arndt Rolfs, Peter Bauer, Sabine Schröder, Rimante Cerkauskiene
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	Frontiers Media S.A. 2022-03-01
Serie:	Frontiers in Medicine
Ämnen:	Alport syndrome COL4A3 COL4A4 COL4A5 variants novel digenic inheritance
Länkar:	https://www.frontiersin.org/articles/10.3389/fmed.2022.859521/full
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