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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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Xue Wang, Linlin Dong, Hui Qiu, Beibei Wang, Sanfeng Wang, Weiran Zhou
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Frontiers Media S.A. 2026-06-01
Цуврал:	Frontiers in Medicine
Нөхцлүүд:	Alport syndrome COL4A5 exon skipping minigene splicing assay non-canonical splice site variant
Онлайн хандалт:	https://www.frontiersin.org/articles/10.3389/fmed.2026.1820315/full
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!