A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa
Work
Year: 2025
Type: article
Abstract: Dystrophic epidermolysis bullosa is a rare subtype of inherited epidermolysis bullosa, caused by variants in the collagen type VII alpha 1 chain (COL7A1) gene (MIM120120). Both autosomal dominant and ... more
Source: BMC Medical Genomics
Institutions Hazara University, Columbia University Irving Medical Center, Kohat University of Science and Technology
Cites: 33
Cited by:
Related to: 10
FWCI:
Citation percentile (by year/subfield):
Subfield: Cell Biology
Domain: Life Sciences
Sustainable Development Goal Good health and well-being
Open Access status: gold
APC paid (est): $2,195
Grant ID international research support initiative program