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.
Csikós, M
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. [electronic resource] - The British journal of dermatology May 2005 - 879-86 p. digital
Publication Type: Case Reports; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
0007-0963
10.1111/j.1365-2133.2005.06542.x doi
Adolescent
Adult
Base Sequence
Child
Child, Preschool
Collagen Type VII--genetics
DNA Mutational Analysis--methods
Epidermolysis Bullosa Dystrophica--genetics
Epitope Mapping
Europe
Female
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Phenotype
Polymerase Chain Reaction--methods
RNA Splice Sites--genetics
Skin--immunology
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. [electronic resource] - The British journal of dermatology May 2005 - 879-86 p. digital
Publication Type: Case Reports; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
0007-0963
10.1111/j.1365-2133.2005.06542.x doi
Adolescent
Adult
Base Sequence
Child
Child, Preschool
Collagen Type VII--genetics
DNA Mutational Analysis--methods
Epidermolysis Bullosa Dystrophica--genetics
Epitope Mapping
Europe
Female
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Phenotype
Polymerase Chain Reaction--methods
RNA Splice Sites--genetics
Skin--immunology