Article
A combination of a common splice site mutation and a frameshift mutation in the COL7A1 gene: absence of functional collagen VII in keratinocytes and skin.
The Journal of investigative dermatology - 1 Sept 1997
Hammami-Hauasli N, Kalinke D U, Schumann H, Kalinke U, Pontz B F, Anton-Lamprecht I, Pulkkinen L, Zimmermann M, Uitto J, Bruckner-Tuderman L
Abstract excerpt
We describe a patient with severe generalized dystrophic epidermolysis bullosa (EBD) and a novel combination of compound heterozygous mutations in the COL7A1 gene. The maternal mutation was an A-to-G transition (425-A --> G) at position -2 of the donor splice site within exon 3 that causes aberra...
Topics
- Antibody Specificity
- Child, Preschool
- Collagen
- DNA
- Epidermolysis Bullosa Dystrophica
- Fluorescent Antibody Technique
- Frameshift Mutation
- Genes, Recessive
- Genotype
- Heterozygote
- Humans
- Keratinocytes
- Microscopy, Electron