Associated Papers
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
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.
Vahidnezhad H et al.
The Journal of Investigative Dermatology, 2017
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.
Kopečková L et al.
The British Journal of Dermatology, 2016
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
Almaani N et al.
Acta Dermato-venereologica, 2011
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
Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1).
Iwata T et al.
The Journal of Dermatology, 2006
Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa.
Mallipeddi R et al.
The British Journal of Dermatology, 2003
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
Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.
Mellerio JE et al.
The Journal of Investigative Dermatology, 1999
Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).
Jonkman MF et al.
The Journal of Investigative Dermatology, 1999
Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?
Hashimoto I et al.
Experimental 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
Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic.
Kon A et al.
The Journal of Investigative Dermatology, 1997
Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).
Järvikallio A et al.
Human Mutation, 1997
Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.
Christiano AM et al.
Human Molecular Genetics, 1995
A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.
Christiano AM et al.
The Journal of Investigative Dermatology, 1995
Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.
Christiano AM et al.
The Journal of Clinical Investigation, 1995
Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.
Christiano AM et al.
Proceedings of the National Academy of Sciences of the United States of America, 1994
Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene.
Uitto J et al.
Archives of Dermatological Research, 1994
[Dystrophic epidermolysis bullosa].
Gol'dshteĭn LM et al.
Vestnik Dermatologii I Venerologii, 1976