| 1 | COL7A1, EBDD, EBDDN, EBDR, EBDRO
|
| Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.
|
| Kern JS, Grüninger G, Imsak R, Müller ML, Schumann H, Kiritsi D, Emmert S, Borozdin W, Kohlhase J, Bruckner-Tuderman L, Has C.
|
| Br J Dermatol 161(5):1089-97. Epub 2009 Jun 5.PMID: 19681861 2009
|
| 2 | COL7A1, EBDD, EBDDN, EBDR, EBDRO
|
| A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity.
|
| Riedl E, Klausegger A, Bauer JW, Foedinger D, Kittler H.
|
| Pediatr Dermatol 26(1):115-7.PMID: 19250433 2009
|
| 3 | COL7A1, EBDD, EBDDN, EBDR, EBDRO
|
| Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.
|
| Kern JS, Kohlhase J, Bruckner-Tuderman L, Has C.
|
| J Invest Dermatol 126(5):1006-12. 2006
|
| 4 | EBDDN
|
| Genetic basis of dominantly inherited transient bullous dermolysis of the newborn : a splice site mutation in the type VII collagen gene.
|
| Christiano AM, Fine JD, Uitto J.
|
| J Invest Dermatol 109(6):811-4. 1997
|