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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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| הוצא לאור ב: | Croat Med J |
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| Main Authors: | , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Croatian Medical Schools
2021
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| נושאים: | |
| גישה מקוונת: | 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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