| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833748 | Molecular Genetics and Metabolism | 2012 | 5 Pages |
Abstract
⺠We report a new case of malonic aciduria. ⺠We report a deletion mutation of exon 1 in the MLYCD gene. ⺠The missense mutation (c.920T>G) is a cause of malonic aciduria. ⺠MLPA should be performed when no mutation is detected by sequencing analysis.
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Biochemistry
Authors
Jinjie Xue, Jing Peng, Mingxing Zhou, Le Zhong, Fei Yin, Desheng Liang, Lingqian Wu,