16 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

Zimmer, A.D.; Kim, G.J.; Hotz, A.; Bourrat, E.; Hausser, I.; Has, C.; Oji, V.; Stieler, K.; Vahlquist, A.; Kunde, V.; Weber, B.; Radner, F.P.W.; Leclerc-Mercier, S.; Schlipf, N.; Demmer, P.; Küsel, J.; Fischer, J.

期刊名称British Journal of Dermatology
作者Zimmer, A.D.; Kim, G.J.; Hotz, A.; Bourrat, E.; Hausser, I.; Has, C.; Oji, V.; Stieler, K.; Vahlquist, A.; Kunde, V.; Weber, B.; Radner, F.P.W.; Leclerc-Mercier, S.; Schlipf, N.; Demmer, P.; Küsel, J.; Fischer, J.
印刷ISSN0007-0963
文件大小1587.95KB
发表时间2017-01
DOI10.1111/bjd.15308

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16 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