[Analysis of ACADVL gene variant in a Chinese pedigree affected with Very-long-chain acl-CoA dehydrogenase deficiency].
The c.1532G>A/1827+2_1827+12del compound heterozygous variants of the ACADVL gene probably underlay the pathogenesis of VLADD in this pedigree. The discovery of the 1827+2_1827+12del variant has enriched the mutational spectrum of the ACADVL gene.
Authors
- Haofeng Ning
- Yuqiong Chai
- Yanan Wang (ORCID: https://orcid.org/0000-0002-1504-8598)
- Jieqiong Wang (ORCID: https://orcid.org/0000-0001-8907-5778)
Institutions
- Luoyang Orthopedic-Traumatological Hospital of Henan Province (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-10-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20210525-00441
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article