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Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population

Alport syndrome (AS) and thin basement membrane nephropathy (TBMN) are part of the spectrum of kidney disorders caused by pathogenic variants in α3, α4, or α5 chains of the collagen type IV, the major structural component of the glomerular basement membrane (GBM). Using targeted next-generation sequ...

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Detalles Bibliográficos
Autores principales: Horaček, Matija, Martić, Tamara Nikuševa, Šenjug, Petar, Perica, Marija Šenjug, Oroz, Maja, Kuzmac, Sania, Klarić, Dragan, Glavina Durdov, Merica, Saraga, Marijan, Milošević, Danko, Batinić, Danica, Ćorić, Marijana, Paić, Frane, Ljubanović, Danica Galešić
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9901899/
https://www.ncbi.nlm.nih.gov/pubmed/35880347
http://dx.doi.org/10.17305/bjbms.2022.7567