Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations

A frequent functional SNP in the MMP1 pr

A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa

✍ Matthias Titeux; Valérie Pendaries; Laure Tonasso; Audrey Décha; Christine Bodem 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 329 KB

## Communicated by Ju ¨rgen Horst Recessive dystrophic epidermolysis bullosa (RDEB) is caused by mutations in the COL7A1 gene encoding type VII collagen. Variations in severity between the different clinical forms of RDEB likely depend on the nature and location of COL7A1 mutations, but observed in