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PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.
Grall A, Guaguère E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Küry S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, André C, Fischer J. Grall A, et al. Among authors: degorce rubiales f. Nat Genet. 2012 Jan 15;44(2):140-7. doi: 10.1038/ng.1056. Nat Genet. 2012. PMID: 22246504
A spontaneous KRT16 mutation in a dog breed: a model for human focal non-epidermolytic palmoplantar keratoderma (FNEPPK).
Plassais J, Guaguère E, Lagoutte L, Guillory AS, de Citres CD, Degorce-Rubiales F, Delverdier M, Vaysse A, Quignon P, Bleuart C, Hitte C, Fautrel A, Kaerle C, Bellaud P, Bensignor E, Queney G, Bourrat E, Thomas A, André C. Plassais J, et al. Among authors: degorce rubiales f. J Invest Dermatol. 2015 Apr;135(4):1187-1190. doi: 10.1038/jid.2014.526. Epub 2014 Dec 18. J Invest Dermatol. 2015. PMID: 25521457 Free article. No abstract available.
15 results