Molecular Analysis of the <scp>HGD</scp> Gene in 9 Families With Alkaptonuric Ochronosis in Iran and Identification of Two Novel Variants
In this study, the mutational spectrum of alkaptonuric ochronosis was investigated in Iran. The HGD gene is a well-studied gene, and hundreds of variants responsible for alkaptonuria have been reported to date. However, we found two novel variants that have not been reported in previous studies.
Authors
- Behzad Davarnia (ORCID: https://orcid.org/0000-0002-3026-7326)
- Mohammad Jahanpanah (ORCID: https://orcid.org/0009-0002-4716-8655)
- Haleh Mokaber
- Diana Mokhtari (ORCID: https://orcid.org/0009-0000-5492-0185)
- yousef Imani Marani
- Ahad Azami
Institutions
- Ardabil University of Medical Sciences (IR)
- Islamic Azad University Ardabil (IR)
- Tehran University of Medical Sciences (IR)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-11-01
- DOI
- https://doi.org/10.1002/mgg3.70156
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00