Concepedia

A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex

Richard Groves, Lu Liu, Patricia J.C. Dopping-Hepenstal, Hugh S. Markus, Patricia A. Lovell, Linda Ozoemena, Joey E. Lai‐Cheong, J Gawler, Katsushi Owaribe, Takashi Hashimoto,

Journal of Investigative Dermatology · 2010 · 144 citations · 24 references

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References

24

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

Anne Joutel, Christophe Corpechot, Anne Ducros et al. · Nature · 1996 · 2.1K citations

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The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

Jo‐David Fine, Robin A.J. Eady, Eugene A. Bauer et al. · Journal of the American Academy of Dermatology · 2008 · 933 citations

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Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

Anne Joutel, Katayoun Vahedi, Christophe Corpechot et al. · The Lancet · 1997 · 684 citations

, , +13

Gene targeting of BPAG1: Abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration

Lifei Guo, Linda Degenstein, James J. Dowling et al. · Cell · 1995 · 442 citations · Full text

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The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1

Arthur Brown, Gilbert Bernier, Martine Mathieu et al. · Nature Genetics · 1995 · 249 citations

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