Multi-omics analysis of methylmalonic acidemia caused by a non-coding region variant in MMAA gene combined with uniparental disomy
Objective·To investigate the genetic etiology of a rare and complex case clinically suspected to be methylmalonic acidemia (MMA), but with negative whole exome sequencing (WES) results, using a multi-omics sequencing approach.Methods·DNA and RNA samples were extracted from the peripheral blood of th...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | zho |
| Published: |
Editorial Office of Journal of Shanghai Jiao Tong University (Medical Science)
2025-06-01
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| Series: | Shanghai Jiaotong Daxue xuebao. Yixue ban |
| Subjects: | |
| Online Access: | https://xuebao.shsmu.edu.cn/article/2025/1674-8115/1674-8115-2025-45-6-800.shtml（ |
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