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Digenic Junctional Epidermolysis Bullosa: Mutations in COL17A1 and LAMB3 Genes

Michaela Floeth, Leena Bruckner‐Tuderman

The American Journal of Human Genetics · 1999 · 76 citations · 31 references

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References

31

Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ <i>RDS</i> and <i>ROM1</i> Loci

Kazuto Kajiwara, Eliot L. Berson, Thaddeus P. Dryja · Science · 1994 · 785 citations

, , +14

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

, , +11

Absence of integrin α6 leads to epidermolysis bullosa and neonatal death in mice

Elisabeth Georges‐Labouesse, Nadia Messaddeq, Ghassan Yehia et al. · Nature Genetics · 1996 · 541 citations

, , +13

Epithelial detachment due to absence of hemidesmosomes in integrin β4 null mice

Ronald van der Neut, Paul Krimpenfort, Jero Calafat et al. · Nature Genetics · 1996 · 406 citations

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Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

John A. McGrath, Biljana Gatalica, Angela M. Christiano et al. · Nature Genetics · 1995 · 370 citations

, , +10