Identifying six single nucleotide variants in the COL17A1 gene that alter RNA splicing: database analysis and minigene assays

Abstract Collagen type XVII alpha 1 chain (COL17A1) is a protein in the collagen family crucial for maintaining the integrity of skin and epithelial tissues. It is also vital for enamel formation and plays a significant role in the differentiation of ameloblasts. Many studies have indicated that sin...

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Bibliographic Details

Published in:	Scientific Reports
Main Authors:	Yingfei Shao, Ran Zhang
Format:	Article
Language:	English
Published:	Nature Portfolio 2025-04-01
Subjects:	COL17A1 Amelogenesis imperfecta Junctional epidermolysis Bullosa Minigene analysis Single nucleotide variants
Online Access:	https://doi.org/10.1038/s41598-025-95851-9