Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion.

Diana C Blaydon, Daniela Nitoiu, Katja-Martina Eckl, Rita M Cabral, Philip Bland, Ingrid Hausser, David A van Heel, Shefali Rajpopat, Judith Fischer, Vinzenz Oji, Alex Zvulunov, Heiko Traupe, Hans Christian Hennies, David P Kelsell

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Biochemistry, Genetics and Molecular Biology