Associated Papers
A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa.
Ayub M et al.
Journal of Medicine and Life, 2024
Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa.
Cogan J et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2014
Novel missense mutation of COL7A1 in a recessive dystrophic epidermolysis bullosa patient with mild clinical phenotype.
Yoshihara N et al.
The Journal of Dermatology, 2014
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N et al.
Experimental Dermatology, 2008
Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.
Sawamura D et al.
Journal of Human Genetics, 2005
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