A novel splice site mutation in IDUA genen
收藏NIAID Data Ecosystem2026-03-10 收录
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资源简介：
We have identified a novel c.1650 + 1G> T splicing mutation in patients with mucopolysacchariodosis type I. This variant affects the essential nucleotide +1 (G to T) of the donor splice site of IDUA intron11 of IDUA gene.
创建时间：
2017-12-12
