Detection of Novel LAMC2 Mutations in Herlitz Junctional Epidermolysis Bullosa

A new nomenclature for the laminins

Robert E. Burgeson, Matthias Chiquet, Rainer Deutzmann et al. · Matrix Biology · 1994 · 756 citations

Life Sciences, Anatomy, Comparative Anatomy +3

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.

Arupa Ganguly, Matthew J. Rock, Darwin J. Prockop · Proceedings of the National Academy of Sciences · 1993 · 677 citations

Life Sciences, Genetics, Molecular Biology +11

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Frances J.D. Smith, Robin A.J. Eady, I.M. Leigh et al. · Nature Genetics · 1996 · 391 citations

Medicine, Pathobiology, Molecular Pathology +8

Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (LAMININ–5)

Daniel Aberdam, M. Galliano, Joëlle Vailly et al. · Nature Genetics · 1994 · 338 citations

Life Sciences, Genetics, Molecular Genetics +8

Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa

Leena Pulkkinen, Angela M. Christiano, Tomi T. Airenne et al. · Nature Genetics · 1994 · 302 citations

Medicine, Genetics, Molecular Genetics +7