Results 191 to 196 of about 4,117 (196)

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 425A→G 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
Leena Bruckner-Tuderman, Sarolta Kárpáti   +1 more
exaly  

Bart’s Syndrome with Novel Frameshift Mutations in the COL7A1 Gene

Fetal and Pediatric Pathology, 2019
Hyun-Chang Ko, Sang-Jin Cheon, Young Mi Han   +2 more
exaly  

OLIGONUCLEOTIDES MATCHING COL7A1 EXON 73 FOR EPIDERMOLYSIS BULLOSA THERAPY

2016
HAISMA ELISABETH MARLENE, POTMAN MARKO, BEUMER WOUTER, BRINKS VERA   +3 more
openaire   +6 more sources

Splice modulation strategy applied to deep intronic variants in COL7A1 causing recessive dystrophic epidermolysis bullosa

Proceedings of the National Academy of Sciences of the United States of America
Emmanuelle Bourrat, David Woodley, Mei Chen   +2 more
exaly  

Double RNA trans-splicing induced gene repair in COL7A1

2016
openaire   +1 more source