Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic <i>SLC25A13</i> Variants
: The high carrier frequency of citrin deficiency in East Asians highlights the need for enhanced genetic screening and counseling, particularly in Korea, providing a valuable reference for future studies on genetic diversity and pathogenic variants in this population.
Authors
- Won Young Heo (ORCID: https://orcid.org/0000-0003-2695-9634)
- Jong Kwon Lee (ORCID: https://orcid.org/0000-0002-6230-1242)
- Mi‐Ae Jang (ORCID: https://orcid.org/0000-0002-6558-5236)
- Hyung‐Doo Park (ORCID: https://orcid.org/0000-0003-1798-773X)
- Ja‐Hyun Jang (ORCID: https://orcid.org/0000-0003-0516-4947)
- Jong‐Won Kim (ORCID: https://orcid.org/0000-0002-0708-9242)
- Sangmi Kim (ORCID: https://orcid.org/0000-0001-8755-752X)
Institutions
- Samsung Medical Center (KR)
- Chosun University Hospital (KR)
- Kimpo University (KR)
- Sungkyunkwan University (KR)
Publication Details
- Journal
- Annals of Laboratory Medicine
- Published
- 2025-06-24
- DOI
- https://doi.org/10.3343/alm.2024.0631
- Citations
- 2
- Primary Topic
- RNA and protein synthesis mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- National Research Foundation of Korea
- Ministry of Science and ICT, South Korea