Aberrant Splicing of COL4A5 Intronic Variant Contribute to the Pathogenesis of X-Linked Alport Syndrome: A Case Series.

Yang LiXue YanZhen LuoXianxian FuZhongju LiQiuzhu XuJuanjuan ChenJingmin YangDaru Lu

Published in: International journal of nephrology and renovascular disease (2024)

gene in XLAS and demonstrates the importance of gene screening for AS.

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