Associated Papers
Genital Crohn's disease in pediatrics and genetic associations.
Chang E et al.
Jpgn Reports, 2025
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
Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Testing Mutation Consequences in Dystrophic Epidermolysis Bullosa.
Akasaka E et al.
International Journal of Molecular Sciences, 2021
Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre.
Yenamandra VK et al.
Acta Dermato-venereologica, 2018
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
Foley SB et al.
Ebiomedicine, 2015
26023681 (PubMed )
Supplement: mmc1.pdf
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
Select a paper to view details