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Case Report: a novel non-canonical splice site variant in COL4A5 in a patient with Alport syndrome

Alport syndrome (AS) is a genetically heterogeneous disorder caused by mutations in type IV collagen genes, clinically characterized by progressive renal function deterioration. Despite advances in genetic screening technologies, cases resulting from non-canonical splice site variants remain diagnos...

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Principais autores: Xue Wang, Linlin Dong, Hui Qiu, Beibei Wang, Sanfeng Wang, Weiran Zhou
פורמט: Artigo
שפה:Inglês
יצא לאור: Frontiers Media S.A. 2026-06-01
סדרה:Frontiers in Medicine
נושאים:
Alport syndrome
COL4A5
exon skipping
minigene splicing assay
non-canonical splice site variant
גישה מקוונת:https://www.frontiersin.org/articles/10.3389/fmed.2026.1820315/full
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