Publications by authors named "Ayda Ghorbani"
BMC Med Genomics
July 2024
Article Synopsis
- The SLC29A3 gene is linked to conditions like H syndrome, with mutations causing various clinical issues; this study focuses on its implications in two Iranian siblings affected by H syndrome.
- Whole-exome sequencing was used to identify a novel start-loss mutation in the SLC29A3 gene, confirming its inheritance through family analysis and Sanger sequencing.
- Findings enhance understanding of how this mutation impacts the SLC29A3 protein, underscoring the significance of genetic research in rare diseases like H syndrome.
