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]
Producer: 20050726Description: 879-86 p. digitalISSN:- 0007-0963
- 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
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Publication Type: Case Reports; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
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