16 novel mutations in {PNPLA}1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in {PNPLA}1 that is essential for proper human skin barrier function
Zimmer A, Kim G, Hotz A, Bourrat E, Hausser I, Has C, Oji V, Stieler K, Vahlquist A, Kunde V, Weber B, Radner F, Leclerc-Mercier S, Schlipf N, Demmer P, Küsel J, Fischer J
Research article (journal) | Peer reviewedDetails about the publication
Journal: British Journal of Dermatology (Br J Dermatol)
Volume: 2017
Status: Published
Release year: 2017
Language in which the publication is written: English
DOI: 10.1111/bjd.15308
Link to the full text: https://doi.org/10.1111%2Fbjd.15308
Authors from the University of Münster
| Oji, Vinzenz | Clinic for Dermatology |