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Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function
British Journal of Dermatology, 2017 A. Zimmer, Gwang-Jin Kim, A. Hotz, E. Bourrat, I. Hausser, C. Has, V. Oji, K. Stieler, A. Vahlquist, V. Kunde, Benedikt Weber, F. Radner, S. Leclerc‐Mercier, N. Schlipf, P. Demmer, J. Küsel, J. Fischer +16 moresemanticscholar +1 more source