Results 181 to 190 of about 3,777 (193)

5′RNA Trans-Splicing Repair of COL7A1 Mutant Transcripts in Epidermolysis Bullosa

International Journal of Molecular Sciences, 2022
Thomas Lettner, Eva M Murauer, Christina Guttmann-Gruber   +2 more
exaly  

Mutation analysis of the COL7A1 gene in a family with Bart syndrome

Chinese Journal of Dermatology, 2022
openaire   +1 more source

The COL7A1 mutation database

Human Mutation, 2012
Katarzyna Wertheim-Tysarowska, Cezary Kowalewski, Grzegorz Święćkowski   +2 more
exaly  

272 Unraveling the mutational landscape of COL7A1 in Germany

Journal of Investigative Dermatology
J Zandanell, C Has
openaire   +1 more source

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

Experimental Dermatology, 2008

exaly  

What do we learn from dystrophic epidermolysis bullosa, nails only? Idiopathic nail dystrophy may harbor a COL7A1 mutation as the underlying cause

Journal of Dermatology, 2020
Rui Yang, Weiwei Li, Xinyi Xia
exaly  

The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation

British Journal of Dermatology, 2010
Maria JOSÉ Escamez, Natividad Cuadrado-Corrales, Sara Llames   +2 more
exaly  

Exon 87 skipping of the COL7A1 gene in dominant dystrophic epidermolysis bullosa

Journal of Dermatology, 2011
Hiroshi Koga, Takahiro Hamada, Norito Ishii   +2 more
exaly  

Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants

Journal of Dermatological Science, 2007

exaly  

High frequency of the 425AG splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa

British Journal of Dermatology, 2005
A Lászik, Sarolta Kárpáti, Leena Bruckner-Tuderman   +2 more
exaly