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Genomics|June 1, 1993
cDNA cloning and chromosomal mapping of the mouse type VII collagen gene (Col7a1): evidence for rapid evolutionary divergence of the geneK Li, A M Christiano, N G Copeland, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|February 1, 1997
Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosaK Tamai, A Ishida-Yamamoto, S Matsuo, et al.
The Journal of Investigative Dermatology|April 1, 1996
A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosaJ A McGrath, T Darling, B Gatalica, 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.
Genomics|November 20, 1995
Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosaF Vidal, C Baudoin, C Miquel, 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.
The Journal of Biological Chemistry|July 8, 1994
Tissue-specific and developmentally regulated expression of human elastin promoter activity in transgenic miceS Hsu-Wong, S D Katchman, I Ledo, et al.
Genomics|May 1, 1994
Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized geneA M Christiano, G G Hoffman, L C Chung-Honet, et al.
Dermatologic Surgery : Official Publication for American Society for Dermatologic Surgery [Et Al.]|August 1, 1997
Citric acid increases viable epidermal thickness and glycosaminoglycan content of sun-damaged skinE F Bernstein, C B Underhill, J Lakkakorpi, et al.
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