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Dermatologic Clinics|January 8, 2000
Cutaneous gene therapy. Principles and prospectsM T Lin, L Pulkkinen, J UittoMolecular Medicine Today|November 14, 1997
Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneityJ Uitto, L Pulkkinen, W H McLeanAmerican Journal of Human Genetics|February 17, 2001
Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticumF Ringpfeil, A Nakano, J Uitto, et al.Human Genetics|November 10, 2001
Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticumL Pulkkinen, A Nakano, F Ringpfeil, et al.The American Journal of Pathology|April 18, 1998
Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresiaL Pulkkinen, L Bruckner-Tuderman, C August, et al.Experimental Dermatology|October 1, 1996
Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophyJ Uitto, L Pulkkinen, F J Smith, et al.The Journal of Clinical Investigation|January 1, 1993
Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene clusterL Pulkkinen, A M Christiano, R G Knowlton, et al.The Journal of Investigative Dermatology|April 1, 1996
Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosaA M Christiano, L Pulkkinen, R A Eady, et al.American Journal of Human Genetics|October 27, 1997
Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosaL Pulkkinen, F Bullrich, P Czarnecki, et al.Human Mutation|January 1, 1995
Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3)L Pulkkinen, J A McGrath, A M Christiano, et al.Pageof 58