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The Journal of Investigative Dermatology|June 1, 1997
A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosaJ Y Lee, L Pulkkinen, H S Liu, et al.
The Journal of Investigative Dermatology|May 1, 1996
Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosaJ A McGarth, A M Christiano, L Pulkkinen, et al.
Nature Genetics|March 1, 1994
Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosaL Pulkkinen, A M Christiano, T Airenne, et al.
Human Mutation|February 5, 2000
Laminin 5 genes and Herlitz junctional epidermolysis bullosa: novel mutations and polymorphisms in the LAMB3 and LAMC2 genes. Mutations in brief no. 190. OnlineA Kon, L Pulkkinen, M Hara, et al.
The Journal of Investigative Dermatology|May 14, 1998
Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosaY Takizawa, L Pulkkinen, H Shimizu, et al.
The Journal of Investigative Dermatology|May 8, 1999
Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1)M F Jonkman, G Moreno, F Rouan, et al.
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete|March 31, 1999
[Prenatal diagnosis of recessive hereditary dystrophic epidermolysis bullosa with haplotype analysis of the type VII collagen gene]J W Bauer, S Ortiz, M Hengstschläger, et al.
The Journal of Investigative Dermatology|January 15, 2000
Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosaL Pulkkinen, M P Marinkovich, H T Tran, et al.
American Journal of Human Genetics|February 1, 1997
Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosaB Gatalica, L Pulkkinen, K Li, et al.
The Journal of Investigative Dermatology|August 22, 2000
Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosaY Takizawa, L Pulkkinen, S C Chao, et al.
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