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 aberrant splicing of two abnormal transcripts. One includes intron 3, and one excludes both exon 3 and intron 3. Both splice...
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