Validation of Pathogenicity of Gene Variants in Fanconi Anemia Using Patient-derived Dermal Fibroblasts
Ann Lab Med
.
2023 Jan 1;43(1):127-131.
doi: 10.3343/alm.2023.43.1.127.
Epub 2022 Sep 1.
Authors
Seon Young Park
1
,
Jong-Mi Lee
2
3
,
Myung-Jin Kim
1
,
Nack-Gyun Chung
4
,
Jung Bok Lee
1
,
Yonghwan Kim
1
,
Myungshin Kim
2
3
Affiliations
1
Department of Biological Sciences & Research Institute of Women's Health, College of Natural Sciences, Sookmyung Women's University, Seoul, Korea.
2
Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
3
Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
4
Department of Pediatrics, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
PMID:
36045072
PMCID:
PMC9467830
DOI:
10.3343/alm.2023.43.1.127
No abstract available
Publication types
Letter
MeSH terms
Cell Cycle Proteins
Fanconi Anemia* / genetics
Fibroblasts
Humans
Nuclear Proteins / genetics
Virulence
Substances
Cell Cycle Proteins
Nuclear Proteins