Novel pathogenic variant in the LCAT gene in a compound heterozygous patient with fish-eye disease and a mild phenotype
These results suggest that the residual 20% LCAT α-activity is sufficient to normalize CE/TC, but not sufficient to prevent the development of corneal opacity in FED.
Authors
- Yuichi Akasaki (ORCID: https://orcid.org/0000-0003-1488-310X)
- Mika Kirinashizawa (ORCID: https://orcid.org/0000-0002-2383-189X)
- Yoshiro Maezawa (ORCID: https://orcid.org/0000-0001-5567-9901)
- Masayuki Kuroda (ORCID: https://orcid.org/0000-0002-1693-3177)
- Misato Yamamoto
- Junko Miyoshi (ORCID: https://orcid.org/0000-0003-3196-0365)
- Koutaro Yokote (ORCID: https://orcid.org/0000-0003-3033-4813)
- Masaaki Miyata (ORCID: https://orcid.org/0000-0002-7727-3432)
- Kensuke Utatsu
- Mitsuru Ohishi
- Rora Nagasawa
Institutions
- Kagoshima University (JP)
- Chiba University (JP)
- Yamamoto Hospital (JP)
- Chiba University Hospital (JP)
Publication Details
- Journal
- Journal of clinical lipidology
- Published
- 2024-10-02
- DOI
- https://doi.org/10.1016/j.jacl.2024.09.013
- Citations
- 4
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.94
Funders
- Japan Agency for Medical Research and Development
- Ministry of Health, Labour and Welfare
- Japan Society for the Promotion of Science