遇见数据集

New Duchenne muscular dystrophy mutation

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NIAID Data Ecosystem2026-03-14 收录
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We present a new mutation in the DMD gene, responsible of Duchenne muscular dystrophy.This is located in the exon 11 (3 nucleotides from 3' end), and it is about the deletion of 4 nucleotides in the intron 11. This mutation has not described yet. The patogenicity test by the Alamut software, shows that this mutation may be a patogenic change, that could lead to skipping in the exon 11. The patient presents a typical clinical history of Duchenne muscular dystrophy.

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2023-03-01
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