Unique <i>TTR</i> Variants D38A and M13dup Among Korean Patients with Hereditary Transthyretin Amyloidosis: A Retrospective Single-Center Cohort Study
This study provides the largest single-institution dataset of Korean patients with ATTRv, incorporating systematic organ assessments. The predominance of the unique <i>TTR</i> variants D38A and M13dup delineates a distinct genetic landscape that may facilitate accurate and timely diagnosis of ATTRv in the Korean population.
Authors
- Seok Jin Kim (ORCID: https://orcid.org/0000-0002-2776-4401)
- Jae Joon Lee (ORCID: https://orcid.org/0000-0001-6222-2248)
- Jin‐Oh Choi (ORCID: https://orcid.org/0000-0002-2441-2267)
- Darae Kim (ORCID: https://orcid.org/0000-0003-3284-0904)
- Min‐Seung Park (ORCID: https://orcid.org/0000-0002-4482-3098)
- Kihyun Kım (ORCID: https://orcid.org/0000-0002-5878-8895)
- Hee‐Jin Kim (ORCID: https://orcid.org/0000-0003-3741-4613)
- Hyun‐Young Kim (ORCID: https://orcid.org/0000-0003-0553-7096)
- Ju‐Hong Min (ORCID: https://orcid.org/0000-0002-7338-9067)
Institutions
- Samsung Medical Center (KR)
- Kangbuk Samsung Hospital (KR)
- Sungkyunkwan University (KR)
Publication Details
- Journal
- Annals of Laboratory Medicine
- Published
- 2025-10-17
- DOI
- https://doi.org/10.3343/alm.2025.0236
- Primary Topic
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Type
- article
- Field-Weighted Citation Impact
- 0.00