Concepedia

Genomic Amplification of the Human Plakophilin 1 Gene and Detection of a New Mutation in Ectodermal Dysplasia/Skin Fragility Syndrome

Neil V. Whittock, Robin A.J. Eady, John A. McGrath, Marek Haftek, Nathalie Angoulvant, François Wolf, H Perrot

Journal of Investigative Dermatology · 2000 · 77 citations · 30 references

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30

Spatial expression of the Drosophila segment polarity gene armadillo is posttranscriptionally regulated by wingless

Bob Riggleman, Paul Schedl, Eric Wieschaus · Cell · 1990 · 380 citations

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Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

John A. McGrath, James R. McMillan, Carrie S. Shemanko et al. · Nature Genetics · 1997 · 374 citations

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Construction of a novel database containing aberrant splicing mutations of mammalian genes

Kenta Nakai, Hiroshi Sakamoto · Gene · 1994 · 329 citations

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Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins.

Panos Kouklis, Elizabeth R. Hutton, Elaine Fuchs · The Journal of Cell Biology · 1994 · 282 citations · Full text

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Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque.

Christina Mertens, C Kuhn, Werner W. Franke · The Journal of Cell Biology · 1996 · 275 citations · Full text

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