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Human Molecular Genetics|May 1, 1997
Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresiaL Pulkkinen, V E Kimonis, Y Xu, et al.
The Journal of Investigative Dermatology|July 1, 1997
A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosaS Chavanas, Y Gache, G Tadini, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|August 5, 1998
LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levelsL Pulkkinen, M F Jonkman, J A McGrath, et al.
Human Molecular Genetics|September 15, 1999
Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageingS Chavanas, Y Gache, J Vailly, et al.
The Journal of Investigative Dermatology|March 1, 1995
Identification of a homozygous exon-skipping mutation in the LAMC2 gene in a patient with Herlitz's junctional epidermolysis bullosaJ Vailly, L Pulkkinen, A M Christiano, et al.
Genomics|January 1, 1995
Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosaL Pulkkinen, D R Gerecke, A M Christiano, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|October 6, 1998
Molecular analysis of the human laminin alpha3a chain gene (LAMA3a): a strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosaL Pulkkinen, P B Cserhalmi-Friedman, M Tang, et al.
The Journal of Investigative Dermatology|January 14, 1999
Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation testsY Takizawa, H Shimizu, F Rouan, et al.
Archives of Dermatological Research|November 7, 1999
Expression of plectin and HD1 epitopes in patients with epidermolysis bullosa simplex associated with muscular dystrophyH Shimizu, T Masunaga, Y Kurihara, et al.
The Journal of Investigative Dermatology|April 1, 1995
Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosaJ A McGrath, L Pulkkinen, A M Christiano, et al.
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