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9. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. McGrath JA; Gatalica B; Li K; Dunnill MG; McMillan JR; Christiano AM; Eady RA; Uitto J Am J Pathol; 1996 Jun; 148(6):1787-96. PubMed ID: 8669466 [TBL] [Abstract][Full Text] [Related]
10. 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. Shimizu H; Takizawa Y; Pulkkinen L; Zone JJ; Matsumoto K; Saida T; Uitto J; Nishikawa T J Invest Dermatol; 1998 Nov; 111(5):887-92. PubMed ID: 9804354 [TBL] [Abstract][Full Text] [Related]
14. 180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa. Jonkman MF; de Jong MC; Heeres K; Pas HH; van der Meer JB; Owaribe K; Martinez de Velasco AM; Niessen CM; Sonnenberg A J Clin Invest; 1995 Mar; 95(3):1345-52. PubMed ID: 7883981 [TBL] [Abstract][Full Text] [Related]
15. Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa. Schumann H; Hammami-Hauasli N; Pulkkinen L; Mauviel A; Küster W; Lüthi U; Owaribe K; Uitto J; Bruckner-Tuderman L Am J Hum Genet; 1997 Jun; 60(6):1344-53. PubMed ID: 9199555 [TBL] [Abstract][Full Text] [Related]
16. Generalized atrophic benign epidermolysis bullosa. Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency. Jonkman MF; de Jong MC; Heeres K; Steijlen PM; Owaribe K; Küster W; Meurer M; Gedde-Dahl T; Sonnenberg A; Bruckner-Tuderman L Arch Dermatol; 1996 Feb; 132(2):145-50. PubMed ID: 8629821 [TBL] [Abstract][Full Text] [Related]
17. E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. Mellerio JE; Eady RA; Atherton DJ; Lake BD; McGrath JA Br J Dermatol; 1998 Aug; 139(2):325-31. PubMed ID: 9767254 [TBL] [Abstract][Full Text] [Related]
18. Hemidesmosomes show abnormal association with the keratin filament network in junctional forms of epidermolysis bullosa. McMillan JR; McGrath JA; Tidman MJ; Eady RA J Invest Dermatol; 1998 Feb; 110(2):132-7. PubMed ID: 9457907 [TBL] [Abstract][Full Text] [Related]
19. 180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype. Mazzanti C; Gobello T; Posteraro P; Paradisi M; Meneguzzi G; Chinni L; Zambruno G Br J Dermatol; 1998 May; 138(5):859-66. PubMed ID: 9666835 [TBL] [Abstract][Full Text] [Related]
20. Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa. Pulkkinen L; Marinkovich MP; Tran HT; Lin L; Herron GS; Uitto J J Invest Dermatol; 1999 Dec; 113(6):1114-8. PubMed ID: 10636730 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]