Multi-omics analysis of methylmalonic acidemia caused by a non-coding region variant in MMAA gene combined with uniparental disomy

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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Bibliographic Details
Main Authors: HUO Xiaoyan, LUO Xiaomei, YE Xiantao, SUN Yu, YU Yongguo, LIANG Lili, FAN Yanjie
Format: Article
Language:zho
Published: Editorial Office of Journal of Shanghai Jiao Tong University (Medical Science) 2025-06-01
Series:Shanghai Jiaotong Daxue xuebao. Yixue ban
Subjects:
non-coding variant
genomic sequencing
transcriptome sequencing
methylmalonic acidemia (mma)
Online Access:https://xuebao.shsmu.edu.cn/article/2025/1674-8115/1674-8115-2025-45-6-800.shtml（
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