Clinical and pathohistological characteristics of Alport spectrum disorder caused by COL4A4 mutation c.193-2A>C: a case series

AIM: To present the pathohistological and clinical characteristics of five Croatian families with Alport spectrum disorders caused by splice acceptor pathogenic variant c.193-2A>C in COL4A4 at the genomic position chr2:227985866. METHODS: The study enrolled five probands with kidney biopsy analys...

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Detalles Bibliográficos
Autores principales: Šenjug, Petar, Nikuševa, Tamara, Martić, Šenjug Perica, Marija, Oroz, Maja, Horaček, Matija, Gotovac, Kristina, Jerčić, Galešić, Krešimir, Galešić, Danica, Ljubanović
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Croatian Medical Schools 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8275942/
https://www.ncbi.nlm.nih.gov/pubmed/34212557
http://dx.doi.org/10.3325/cmj.2021.62.204

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8275942/
https://www.ncbi.nlm.nih.gov/pubmed/34212557
http://dx.doi.org/10.3325/cmj.2021.62.204

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