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Year | Number of Results |
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1995 | 1 |
1997 | 2 |
1998 | 1 |
2024 | 0 |
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Page 1
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.
Nat Genet. 1995 Sep;11(1):83-6. doi: 10.1038/ng0995-83.
Nat Genet. 1995.
PMID: 7550320
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.
Schumann H, et al.
Am J Hum Genet. 1997 Jun;60(6):1344-53. doi: 10.1086/515463.
Am J Hum Genet. 1997.
PMID: 9199555
Free PMC article.
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Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.
Jonkman MF, Scheffer H, Stulp R, Pas HH, Nijenhuis M, Heeres K, Owaribe K, Pulkkinen L, Uitto J.
Jonkman MF, et al.
Cell. 1997 Feb 21;88(4):543-51. doi: 10.1016/s0092-8674(00)81894-2.
Cell. 1997.
PMID: 9038345
Free article.
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Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa.
Floeth M, Fiedorowicz J, Schäcke H, Hammami-Hausli N, Owaribe K, Trüeb RM, Bruckner-Tuderman L.
Floeth M, et al.
J Invest Dermatol. 1998 Sep;111(3):528-33. doi: 10.1046/j.1523-1747.1998.00325.x.
J Invest Dermatol. 1998.
PMID: 9740252
Free article.
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