J. Fine, R. Eady, E. Bauer, J. Bauer, L. Bruckner-tuderman et al., The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB, Journal of the American Academy of Dermatology, vol.58, issue.6, pp.931-50, 2008.
DOI : 10.1016/j.jaad.2008.02.004

Y. Mitsuhashi and I. Hashimoto, Genetic abnormalities and clinical classification of epidermolysis bullosa, Arch Dermatol Res, vol.295, pp.29-33, 2003.

R. Varki, S. Sadowski, J. Uitto, and E. Pfendner, Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes, Journal of Medical Genetics, vol.44, issue.3, pp.181-92, 2007.
DOI : 10.1136/jmg.2006.045302

L. Bruckner-tuderman, The dermo-epidermal juncture. Recent aspects of pathophysiology, Hautarzt, vol.44, pp.1-4, 1993.

J. Fine, R. Eady, E. Bauer, R. Briggaman, L. Bruckner-tuderman et al., Revised classification system for inherited epidermolysis bullosa, Journal of the American Academy of Dermatology, vol.42, issue.6, pp.1051-66, 2000.
DOI : 10.1067/mjd.2000.106369

C. Bodemer, S. Tchen, S. Ghomrasseni, S. Sé-guier, F. Gaultier et al., Skin expression of metalloproteinases and tissue inhibitor of metalloproteinases in sibling patients with recessive dystrophic epidermolysis and intrafamilial phenotypic variation, J Invest Dermatol, vol.121, pp.273-282, 2003.

M. Titeux, V. Pendaries, L. Tonasso, A. Dé-cha, C. Bodemer et al., promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa, Human Mutation, vol.11, issue.Pt 1, pp.267-76, 2008.
DOI : 10.1002/humu.20647

A. Ishiko, T. Masunaga, T. Ota, and T. Nishikawa, Does the position of the premature termination codon in COL7A1 correlate with the clinical severity in recessive dystrophic epidermolysis bullosa?, Experimental Dermatology, vol.78, issue.4, pp.229-262, 2004.
DOI : 10.1046/j.1523-1747.1999.00601.x

H. Horn and M. Tidman, The clinical spectrum of dystrophic epidermolysis bullosa, British Journal of Dermatology, vol.8, issue.2, pp.267-74, 2002.
DOI : 10.1046/j.1523-1747.2000.00930.x

N. Dang and D. Murrell, Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa, Experimental Dermatology, vol.127, issue.7, pp.553-68, 2008.
DOI : 10.1038/nm766

J. Sambrook, E. Fritsh, and T. Maniatis, Molecular cloning: a laboratory manual. Cold spring Harbor: Cold Spring Laboratory Press, 1989.

H. Ouragini, F. Cherif, W. Daoud, S. Kassar, C. Charfeddine et al., Haplotypic classification of dystrophic epidermolysis bullosa in Tunisian consanguineous families: implication for diagnosis, Archives of Dermatological Research, vol.113, issue.7, pp.365-70, 2008.
DOI : 10.1007/s00403-008-0861-2

P. Posteraro, M. Pascucci, M. Colombi, S. Barlati, A. Giannetti et al., Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa, Biochemical and Biophysical Research Communications, vol.338, issue.3, pp.1391-401, 2005.
DOI : 10.1016/j.bbrc.2005.10.097

L. Dunleavey, S. Beyzade, and S. Ye, Rapid genotype analysis of the matrix metalloproteinase-1 gene 1G/2G polymorphism that is associated with risk of cancer, Matrix Biology, vol.19, issue.2, pp.175-182, 2000.
DOI : 10.1016/S0945-053X(00)00059-7

J. Weber and C. Wong, Mutation of human short tandem repeats, Human Molecular Genetics, vol.2, issue.8, pp.1123-1131, 1993.
DOI : 10.1093/hmg/2.8.1123

M. Dunnill, A. Richards, G. Milana, F. Mollica, D. Atherton et al., Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities., Journal of Medical Genetics, vol.31, issue.10, pp.745-753, 1994.
DOI : 10.1136/jmg.31.10.745

N. Whittock, G. Ashton, R. Mohammedi, J. Mellerio, C. Mathew et al., Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch, and Conformation Sensitive Gel Electrophoresis, Journal of Investigative Dermatology, vol.113, issue.4, pp.673-86, 1999.
DOI : 10.1046/j.1523-1747.1999.00732.x

M. Krawczak and D. Cooper, Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment, Human Genetics, vol.86, issue.5, pp.425-466, 1991.
DOI : 10.1007/BF00194629

L. Gouya, H. Puy, A. Robreau, M. Bourgeois, J. Lamoril et al., The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH, Nature Genetics, vol.30, issue.1, pp.27-35, 2002.
DOI : 10.1038/ng809

A. Christiano, J. Mcgrath, K. Tan, and J. Uitto, Glycine substitutions in the triplehelical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance, Am J Hum Genet, vol.58, pp.671-81, 1996.

Y. Li, A. Korol, T. Fahima, and E. Nevo, Microsatellites Within Genes: Structure, Function, and Evolution, Molecular Biology and Evolution, vol.21, issue.6, pp.991-1007, 2004.
DOI : 10.1093/molbev/msh073

A. Kö-nig and L. Bruckner-tuderman, Transforming growth factor-beta promotes deposition of collagen VII in a modified organotypic skin model, Lab Invest, vol.70, pp.203-212, 1994.

K. Dipple and E. Mccabe, Modifier Genes Convert ???Simple??? Mendelian Disorders to Complex Traits, Molecular Genetics and Metabolism, vol.71, issue.1-2, pp.43-50, 2000.
DOI : 10.1006/mgme.2000.3052