A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro
c.575G > T (p.Arg192Leu) in PDHB gene is a pathogenic missense mutation, which causes PDH deficiency in autosomal recessive inheritance mode.
Authors
- Yi Lu (ORCID: https://orcid.org/0000-0002-6423-8582)
- Xin Li (ORCID: https://orcid.org/0000-0001-6755-9907)
- Ying Li (ORCID: https://orcid.org/0000-0001-5062-0230)
- Jiyu Liu (ORCID: https://orcid.org/0000-0002-1900-8585)
- Tao Bo
- Lin Cheng (ORCID: https://orcid.org/0000-0002-3121-2001)
Institutions
- Central South University (CN)
- First Affiliated Hospital of University of South China (CN)
- Third Xiangya Hospital (CN)
- University of South China (CN)
Publication Details
- Journal
- The Italian Journal of Pediatrics/Italian journal of pediatrics
- Published
- 2025-03-06
- DOI
- https://doi.org/10.1186/s13052-025-01917-9
- Citations
- 1
- Primary Topic
- Biochemical Acid Research Studies
- Type
- article
- Field-Weighted Citation Impact
- 1.11