Identification and pathogenicity analysis of a novel intronic COL4A5 variant in a Chinese family
BackgroundX-linked Alport syndrome (XLAS) is a disorder of type IV collagen structure caused by pathogenic variants of the COL4A5 gene and characterized by progressive kidney disease, hearing loss, and ocular abnormalities. Although mutation screening is commonly performed for AS-associated genes, t...
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| Principais autores: | , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Frontiers Media S.A.
2026-05-01
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| סדרה: | Frontiers in Medicine |
| נושאים: | |
| גישה מקוונת: | https://www.frontiersin.org/articles/10.3389/fmed.2026.1783004/full |
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