| 1 | COL7A1, EBDD, EBDDN, EBDR, EBDRO
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| 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.
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| Kern JS, Grüninger G, Imsak R, Müller ML, Schumann H, Kiritsi D, Emmert S, Borozdin W, Kohlhase J, Bruckner-Tuderman L, Has C.
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| Br J Dermatol 161(5):1089-97. Epub 2009 Jun 5.PMID: 19681861 2009
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| 2 | COL7A1, EBDD, EBDDN, EBDR, EBDRO
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| A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity.
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| Riedl E, Klausegger A, Bauer JW, Foedinger D, Kittler H.
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| Pediatr Dermatol 26(1):115-7.PMID: 19250433 2009
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| 3 | COL7A1, EBDR, EBDRO
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| Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing.
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| Titeux M, Mejia JE, Mejlumian L, Bourthoumieu S, Mirval S, Tonasso L, Heller M, Prost-Squarcioni C, Hovnanian A.
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| Hum Mutat 27(3):291-2. 2006
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| 4 | COL7A1, EBDD, EBDDN, EBDR, EBDRO
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| Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.
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| Kern JS, Kohlhase J, Bruckner-Tuderman L, Has C.
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| J Invest Dermatol 126(5):1006-12. 2006
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| 5 | COL7A1, EBDR, EBDRO
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| Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.
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| Fassihi H, Lu L, Wessagowit V, Ozoemena LC, Jones CA, Dopping-Hepenstal PJ, Foster L, Atherton DJ, Mellerio JE, McGrath JA.
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| J Invest Dermatol 126(9):2039-43. Epub 2006 May 18. 2006
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| 6 | COL7A1, EBDR, EBDRO
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| A glycine substitution in the COL7A1 gene causes mild RDEB in a Pakistani family.
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| Kraemer L, Wajid M, Christiano AM.
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| Eur J Dermatol 16(6):615-9. 2006
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