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Article

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

Croatian medical journal - 30 Jun 2021

Šenjug Petar, Nikuševa Martić Tamara, Šenjug Perica Marija, Oroz Maja, Horaček Matija, Gotovac Jerčić Kristina, Galešić Krešimir, Galešić Ljubanović Danica

Abstract excerpt

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 analysis and five family members. Mutation screening was performed with Illumina MiSeq platform. The pathogenic variant was...

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PMID: 34212557
PMCID: PMC8275942

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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