Jouni Uitto

Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis Bullosa with Pyloric Atresia: Missense versus Nonsense

Leena Pulkkinen, Fatima Rouan, Leena Bruckner–Tuderman et al. · The American Journal of Human Genetics · 1998 · 116 citations · Full text

Compound Heterozygosity for a Recurrent 16.5-kb Alu-Mediated Deletion Mutation and Single-Base-Pair Substitutions in the ABCC6 Gene Results in Pseudoxanthoma Elasticum

Franziska Ringpfeil, Aoi Nakano, Jouni Uitto et al. · The American Journal of Human Genetics · 2001 · 83 citations · Full text

Abcc6 Gene Results, Genetics, Genome Structure +11

Genetic Basis of Dominantly Inherited Transient Bullous Dermolysis of the Newborn: A Splice Site Mutation in the Type VII Collagen Gene

Angela M. Christiano, Jo‐David Fine, Jouni Uitto · Journal of Investigative Dermatology · 1997 · 71 citations · Full text

Splice Site Mutation, Cutaneous Biology, Genetics +6

A Homozygous Deletion Mutation in the Gene Encoding the 180-kDa Bullous Pemphigoid Antigen (BPAG2) in a Family with Generalized Atrophic Benign Epidermolysis Bullosa

John A. McGrath, Thomas N. Darling, Biljana Gatalica et al. · Journal of Investigative Dermatology · 1996 · 66 citations · Full text

Genetics, Pathology, Homozygous Deletion Mutation +4

Cooperation between SMAD and NF-κB in growth factor regulated type VII collagen gene expression

Atsushi Kon, Laurence Vindevoghel, David J. Kouba et al. · Oncogene · 1999 · 66 citations

Inflammation, Cytokine, Fibrosis +10