A novel deep intronic COL5A1 variant in an Ehlers-Danlos syndrome family: functional characterization by minigene assay

J Jie Zhao J Jingjing Feng (The Institute for Advanced Studies, TaiKang Center for Life and Medical Sciences, State Key Laboratory of Metabolism and Regulation in Complex Organisms, College of Life Sciences, Wuhan University)

Article Details

Volume / Issue Vol. 16, Issue 1
Published March 31, 2026
ISSN 2045-2322
Publisher Nature Portfolio

Journal Info

Scientific Reports

Nature Portfolio

ISSN: 2045-2322 Open Access Life Sciences

Authors (2)

J

Jie Zhao

J

Jingjing Feng

The Institute for Advanced Studies, TaiKang Center for Life and Medical Sciences, State Key Laboratory of Metabolism and Regulation in Complex Organisms, College of Life Sciences, Wuhan University