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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Библиографические подробности
Опубликовано в: :Croat Med J
Главные авторы: Šenjug, Petar, Nikuševa, Tamara, Martić, Šenjug Perica, Marija, Oroz, Maja, Horaček, Matija, Gotovac, Kristina, Jerčić, Galešić, Krešimir, Galešić, Danica, Ljubanović
Формат: Artigo
Язык:Inglês
Опубликовано: Croatian Medical Schools 2021
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC8275942/
https://ncbi.nlm.nih.gov/pubmed/34212557
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3325/cmj.2021.62.204
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