N. Hammami-Hauasli

Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa.

L. Bruckner-Tuderman, L. Bruckner-Tuderman, B. Höpfner, 1999, Matrix biology : journal of the International Society for Matrix Biology.

Two Forms of Collagen XVII in Keratinocytes

M. Raghunath, L. Bruckner-Tuderman, H. Schäcke, 1998, The Journal of Biological Chemistry.

A combination of a common splice site mutation and a frameshift mutation in the COL7A1 gene: absence of functional collagen VII in keratinocytes and skin.

J. Uitto, L. Pulkkinen, B. Pontz, 1997, The Journal of investigative dermatology.

Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa.

J. Uitto, L. Pulkkinen, A. Mauviel, 1997, American journal of human genetics.

Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype.

H. Shimizu, T. Nishikawa, L. Bruckner-Tuderman, 1999, The Journal of investigative dermatology.

Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.

L. Bruckner-Tuderman, W. Küster, H. Schumann, 1999, The Journal of investigative dermatology.

Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.

M. Raghunath, L. Bruckner-Tuderman, W. Küster, 1998, The Journal of investigative dermatology.

Some, but Not All, Glycine Substitution Mutations inCOL7A1 Result in Intracellular Accumulation of Collagen VII, Loss of Anchoring Fibrils, and Skin Blistering*

M. Raghunath, T. Luger, L. Bruckner-Tuderman, 1998, The Journal of Biological Chemistry.

Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

P. Krajči, S. Naylor, M. Zimmermann, 1997, Human molecular genetics.

Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa.

C. Bodemer, M. Lathrop, Y. Barrandon, 1998, American journal of human genetics.

Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa.

R. Trüeb, L. Bruckner-Tuderman, H. Schäcke, 1998, The Journal of investigative dermatology.