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The Journal of Investigative Dermatology|February 17, 2001
Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C geneA Nakano, K Nomura, H Nakano, et al.
The Journal of Investigative Dermatology|January 29, 2000
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophyF Rouan, L Pulkkinen, G Meneguzzi, et al.
The Journal of Investigative Dermatology|November 6, 1998
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 COL17A1H Shimizu, Y Takizawa, L Pulkkinen, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|June 30, 2000
Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosaN Kambham, N Tanji, R L Seigle, et al.
Genomics|November 15, 1994
A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosaL Pulkkinen, A M Christiano, D Gerecke, et al.
Journal of the American Academy of Dermatology|November 26, 1999
Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literatureH Shimizu, Y Takizawa, L Pulkkinen, et al.
Nature Genetics|June 1, 1995
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresiaF Vidal, D Aberdam, C Miquel, et al.
The Journal of Investigative Dermatology|December 18, 1998
Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counselingF Rouan, L Pulkkinen, M F Jonkman, et al.
The Journal of Clinical Investigation|November 15, 1996
A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophyS Chavanas, L Pulkkinen, Y Gache, et al.
American Journal of Human Genetics|October 30, 1998
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsenseL Pulkkinen, F Rouan, L Bruckner-Tuderman, et al.
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