- Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. Pulkkinen, L., Rouan, F., Bruckner-Tuderman, L., Wallerstein, R., Garzon, M., Brown, T., Smith, L., Carter, W., Uitto, J. Am. J. Hum. Genet. (1998)
- Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia. Pulkkinen, L., Kurtz, K., Xu, Y., Bruckner-Tuderman, L., Uitto, J. Lab. Invest. (1997)
- The role of neutrophil membrane glycoprotein GP-150 in neutrophil adherence to endothelium in vitro. Harlan, J.M., Killen, P.D., Senecal, F.M., Schwartz, B.R., Yee, E.K., Taylor, R.F., Beatty, P.G., Price, T.H., Ochs, H.D. Blood (1985)
- Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. Pulkkinen, L., Bruckner-Tuderman, L., August, C., Uitto, J. Am. J. Pathol. (1998)
- Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. Nakano, A., Pulkkinen, L., Murrell, D., Rico, J., Lucky, A.W., Garzon, M., Stevens, C.A., Robertson, S., Pfendner, E., Uitto, J. Pediatr. Res. (2001)
- Nine novel single-nucleotide polymorphisms in the integrin beta4 (ITGB4) gene in the Japanese population. Hirano, A., Nagai, H., Harada, H., Terada, Y., Haga, S., Kajiwara, T., Emi, M. J. Hum. Genet. (2001)
- Rabbit leukocyte adhesion molecules CD11/CD18 and their participation in acute and delayed inflammatory responses and leukocyte distribution in vivo. Lindbom, L., Lundberg, C., Prieto, J., Raud, J., Nortamo, P., Gahmberg, C.G., Patarroyo, M. Clin. Immunol. Immunopathol. (1990)
- Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. Ashton, G.H., Sorelli, P., Mellerio, J.E., Keane, F.M., Eady, R.A., McGrath, J.A. Br. J. Dermatol. (2001)
- Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex. Jonkman, M.F., Pas, H.H., Nijenhuis, M., Kloosterhuis, G., Steege, G. J. Invest. Dermatol. (2002)
- Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4). Pulkkinen, L., Kim, D.U., Uitto, J. Am. J. Pathol. (1998)
- CD13 (GP150; aminopeptidase-N): predominant functional activity in blood is localized to plasma and is not cell-surface associated. Favaloro, E.J., Browning, T., Facey, D. Exp. Hematol. (1993)
- Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa-pyloric atresia syndrome and altered basement membrane zone immunofluorescence for the alpha6beta4 integrin. Takizawa, Y., Shimizu, H., Nishikawa, T., Hatta, N., Pulkkinen, L., Uitto, J. J. Invest. Dermatol. (1997)
- Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. Iacovacci, S., Cicuzza, S., Odorisio, T., Silvestri, E., Kayserili, H., Zambruno, G., Puddu, P., D'Alessio, M. Exp. Dermatol. (2003)