Associated Papers
Gamma-Secretase Inhibitors Downregulate the Profibrotic NOTCH Signaling Pathway in Recessive Dystrophic Epidermolysis Bullosa.
Condorelli AG et al.
The Journal of Investigative Dermatology, 2024
A novel mutation of COL7A1 in a Chinese DEB-Pt family and review of the literature.
Jin L et al.
Journal of Cosmetic Dermatology, 2020
Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial.
Masunaga T et al.
The Journal of Dermatology, 2018
A Japanese family with dominant pretibial dystrophic epidermolysis bullosa: Identification of a new glycine substitution in the triple-helical collagenous domain of type VII collagen.
Hamada T et al.
Journal of Dermatological Science, 2009
Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa.
Posteraro P et al.
Biochemical and Biophysical Research Communications, 2005
[Dystrophic epidermolysis bullosa].
Gol'dshteĭn LM et al.
Vestnik Dermatologii I Venerologii, 1976
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