| 1 | COL17A1, EBJ1A, EBJ1B, EBJ1C, EBJ2A, EBJ2B, EBJ2C, EBJ2D, EBJ2E, EBJPAA, EBS1, EBSMD, ITGA6, ITGB4, LAMA3, LAMB3, LAMC2, PLEC
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| Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
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| Varki R, Sadowski S, Pfendner E, Uitto J.
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| J Med Genet 43(8):641-52. Epub 2006 Feb 10. 2006
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| 2 | COL17A1, EBJ2E
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| Collagen XVII promotes integrin-mediated squamous cell carcinoma transmigration--a novel role for alphaIIb integrin and tirofiban.
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| Parikka M, Nissinen L, Kainulainen T, Bruckner-Tuderman L, Salo T, Heino J, Tasanen K.
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| Exp Cell Res 312(8):1431-8. Epub 2006 Feb 20. 2006
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| 3 | COL17A1, EBJ2E
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| Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta.
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| Nakamura H, Sawamura D, Goto M, Nakamura H, Kida M, Ariga T, Sakiyama Y, Tomizawa K, Mitsui H, Tamaki K, Shimizu H.
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| Int J Mol Med 18(2):333-7. 2006
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| 4 | COL17A1, EBJ2E
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| A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa.
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| Wu Y, Li G, Zhu X.
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| J Dermatol Sci 28(3):181-6. 2002
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| 5 | COL17A1, EBJ2E
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| Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
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| Floeth M, Bruckner-Tuderman L.
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| Am J Hum Genet 65(6):1530-7 1999
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| 6 | COL17A1, EBJ2E
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| Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa.
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| Pulkkinen L, Marinkovich MP, Tran HT, Lin L, Herron GS, Uitto J.
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| J Invest Dermatol 113(6):1114-8. 1999
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| 7 | COL17A1, EBJ2E
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| The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1.
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| Ishiko A, Shimizu H, Masunaga T, Yancey KB, Giudice GJ, Zone JJ, Nishikawa T.
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| J Invest Dermatol 111 : 887-892. 1998
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| 8 | COL17A1, EBJ2E
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| Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.
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| Gatalica B, et al.
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| Am J Hum Genet 60 : 352-365. 1997
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| 9 | COL17A1, EBJ2E
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| Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa.
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| Darling TN, et al.
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| J Invest Dermatol 108 : 463-468. 1997
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| 10 | COL17A1, EBJ2E
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| Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa.
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| Schumann H, Hammami-Hauasli N, Pulkkinen L, Mauviel A, Kuster W, Luthi U, Owaribe K, Uitto J, Bruckner-Tuderman L.
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| Am J Hum Genet 60(6):1344-53. 1997
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| 11 | COL17A1, EBJ2E
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| Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa.
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| Scheffer H, Stulp RP, Verlind E, van der Meulen M, Bruckner-Tuderman L, Gedde-Dahl T Jr, te Meerman GJ, Sonnenberg A, Buys CH, Jonkman MF.
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| Hum Genet 100(2):230-5. 1997
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| 12 | COL17A1, EBJ2E
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| A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa.
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| Chavanas S, Gache Y, Tadini G, Pulkkinen L, Uitto J, Ortonne JP, Meneguzzi G.
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| J Invest Dermatol 109(1):74-8. 1997
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| 13 | EBJ2B, EBJ2E
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| Generalized atrophic benign epidermolysis bullosa. Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency.
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| Jonkman MF, et al.
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| Arch Dermatol 132 : 145-150. 1996
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