| 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 | MMP1, EBDR
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| A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa.
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| Titeux M, Pendaries V, Tonasso L, Dˇcha A, Bodemer C, Hovnanian A.
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| Hum Mutat 29(2):267-76. 2008
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| 4 | COL7A1, EBDD, EBDR
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| Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
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| Dang N, Murrell DF.
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| Exp Dermatol 17(7):553-68. Review.
2008
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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | COL7A1, EBDR
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| Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa : analysis of transcript levels in dermal fibroblasts.
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| Gardella R, Zoppi N, Ferraboli S, Marini D, Tadini G, Barlati S, Colombi M.
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| Hum Mutat 13 : 439-452. 1999
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| 10 | COL7A1, EBDR
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| Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.
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| Terracina M, Posteraro P, Schubert M, Sonego G, Atzori F, Zambruno G, Bruckner-Tuderman L, Castiglia D.
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| J Invest Dermatol 111 : 744-750. 1998
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| 11 | EBDR, COL7A1
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| Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa : implications for genetic counseling.
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| Kon A, McGrath JA, Pulkkinen L, Nomura K, Nakamura T, Maekawa Y, Christiano AM, Hashimoto I, Uitto J.
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| J Invest Dermatol 108 : 224-228. 1997
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| 12 | COL7A1, EBDD, EBDR
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| Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.
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| Winberg JO, Hammami-Hauasli N, Nilssen O, Anton-Lamprecht I, Naylor SL, Kerbacher K, Zimmermann M, Krajci P, Gedde-Dahl T Jr, Bruckner-Tuderman L.
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| Hum Mol Genet 6(7):1125-35. 1997
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| 13 | COL7A1, EBDR
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| Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa.
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| Mellerio JE, Dunnill MG, Allison W, Ashton GH, Christiano AM, Uitto J, Eady RA, McGrath JA.
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| J Invest Dermatol 109(2):246-9. 1997
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| 14 | COL7A1, EBDR
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| Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
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| Hovnanian A, Rochat A, Bodemer C, Petit E, Rivers CA, Prost C, Fraitag S, Christiano AM, Uitto J, Lathrop M, Barrandon Y, de Prost Y.
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| Am J Hum Genet 61(3):599-610. 1997
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| 15 | COL7A1, EBDD, EBDR
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| Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).
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| Jarvikallio A, Pulkkinen L, Uitto J.
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| Hum Mutat 10(5):338-47. 1997
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| 16 | COL7A1, EBDD, EBDR
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| Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa : a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.
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| Christiano AM, Anton-Lamprecht I, Amano S, Ebschner U, Burgeson RE, Uitto J.
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| Am J Hum Genet 58 : 682-693. 1996
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| 17 | COL7A1, EBDD, EBDR
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| Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.
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| Christiano AM, McGrath JA, Tan KC, Uitto J.
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| Am J Hum Genet 58 : 671-681. 1996
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| 18 | COL7A1, EBDR
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| A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa.
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| Christiano AM, D'Alessio M, Paradisi M, Angelo C, Mazzanti C, Puddu P, Uitto J.
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| J Invest Dermatol 106 : 679-684. 1996
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| 19 | COL7A1, EBDR
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| Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.
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| Gardella R, Belletti L, Zoppi N, Marini D, Barlati S, Colombi M.
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| Am J Hum Genet 59 : 292-300. 1996
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| 20 | COL7A1, EBDR
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| Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
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| Dunnill MG, McGrath JA, Richards AJ, Christiano AM, Uitto J, Pope FM, Eady RA.
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| J Invest Dermatol 107 : 171-177. 1996
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| 21 | COL7A1, EBDR
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| Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.
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| Christiano AM, Suga Y, Greenspan DS, Ogawa H, Uitto J.
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| J Clin Invest 95 : 1328-1334. 1995
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| 22 | EBDR, COL7A1
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| Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.
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| Christiano AM, Suga Y, Greenspan DS, Ogawa H, Uitto J.
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| Genomics 21 : 160-168. 1994
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| 23 | COL7A1, EBDR
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| Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.
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| Hovnanian A, Hilal L, Blanchet-Bardon C, de Prost Y, Christiano AM, Uitto J, Goossens M.
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| Am J Hum Genet 55 : 289-296. 1994
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| 24 | EBDR, COL7A1
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| A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa.
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| Dunnill MG, Richards AJ, Milana G, Mollica F, Eady RA, Pope FM.
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| Hum Mol Genet 3 : 1693-1694. 1994
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| 25 | EBDR, COL7A1
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| Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities.
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| Dunnill MG, Richards AJ, Milana G, Mollica F, Atherton D, Winship I, Farrall M, al-Imara L, Eady RA, Pope FM.
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| J Med Genet 31 : 745-748. 1994
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| 26 | EBDR
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| Biochemical, molecular and ultrastructural heterogeneity in severe mutilating recessive dystrophic epidermolysis bullosa.
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| Winberg JO, et al.
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| Eur J Dermatol 4 : 463-470. 1994
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| 27 | COL7A1, EBDD, EBDR
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| Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa : mutations in the type VII collagen and kalinin (laminin 5) genes.
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| Uitto J, Pulkkinen L, Christiano AM.
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| J Invest Dermatol 103 : 39S-46S. 1994
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| 28 | EBDR
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| A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa.
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| Hilal L, et al.
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| Nat Genet 5 : 287-293. 1993
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| 29 | COL7A1, EBDR
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| A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.
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| Christiano AM, Greenspan DS, Hoffman GG, Zhang X, Tamai Y, Lin AN, Dietz HC, Hovnanian A, Uitto J.
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| Nat Genet 4 : 62-66. 1993
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| 30 | EBDR
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| Recessive dystrophic epidermolysis bullosa keratinocytes synthesize type VII collagen alpha chains of normal molecular size but the anchoring fibril assembly is impaired.
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| Iwasaki T, et al.
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| Biochem Biophys Res Commun 193 : 604-610. 1993
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| 31 | EBDR
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| Genetic linkage of recessive dystrophic epidermolysis bullosa to type VII collagen gene.
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| Hovnanian A, et al.
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| J Clin Invest 90 : 1032-1036. 1992
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| 32 | EBDR
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| Exclusion of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype.
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| Hovnanian A, et al.
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| J Clin Invest 88 : 1716-1721. 1991
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