Associated Papers
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
Mariath LM et al.
Clinical Genetics, 2021
A Case of Dominant Dystrophic Epidermolysis Bullosa with a G2043R Mutation in the Type VII Collagen Gene.
Komatsu K et al.
Acta Dermatovenerologica Croatica : Adc, 2020
Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa.
Bremer J et al.
Molecular Therapy. Nucleic Acids, 2019
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
van den Akker PC et al.
Journal of Medical Genetics, 2011
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N et al.
Experimental Dermatology, 2008
Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa.
Mallipeddi R et al.
The British Journal of Dermatology, 2003
Proteinases of the bone morphogenetic protein-1 family convert procollagen VII to mature anchoring fibril collagen.
Rattenholl A et al.
The Journal of Biological Chemistry, 2002
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.
Whittock NV et al.
The Journal of Investigative Dermatology, 1999
Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.
Mecklenbeck S et al.
The Journal of Investigative Dermatology, 1999
A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa.
Mellerio JE et al.
The British Journal of Dermatology, 1998
Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.
Winberg JO et al.
Human Molecular Genetics, 1997
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