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Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2.
Lefévre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, Blanchet-Bardon C, Heilig R, Foglio M, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J. Lefévre C, et al. Hum Mol Genet. 2003 Sep 15;12(18):2369-78. doi: 10.1093/hmg/ddg235. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915478
Mutations in the gene encoding SLURP-1 in Mal de Meleda.
Fischer J, Bouadjar B, Heilig R, Huber M, Lefèvre C, Jobard F, Macari F, Bakija-Konsuo A, Ait-Belkacem F, Weissenbach J, Lathrop M, Hohl D, Prud'homme JF. Fischer J, et al. Among authors: lefevre c. Hum Mol Genet. 2001 Apr 1;10(8):875-80. doi: 10.1093/hmg/10.8.875. Hum Mol Genet. 2001. PMID: 11285253
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.
Lesueur F, Bouadjar B, Lefèvre C, Jobard F, Audebert S, Lakhdar H, Martin L, Tadini G, Karaduman A, Emre S, Saker S, Lathrop M, Fischer J. Lesueur F, et al. Among authors: lefevre c. J Invest Dermatol. 2007 Apr;127(4):829-34. doi: 10.1038/sj.jid.5700640. Epub 2006 Nov 30. J Invest Dermatol. 2007. PMID: 17139268 Free article.
Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefevre syndrome.
Lefèvre C, Blanchet-Bardon C, Jobard F, Bouadjar B, Stalder JF, Cure S, Hoffmann A, Prud'Homme JF, Fischer J. Lefèvre C, et al. J Invest Dermatol. 2001 Dec;117(6):1657-61. doi: 10.1046/j.0022-202x.2001.01595.x. J Invest Dermatol. 2001. PMID: 11886537 Free article.
Mutations in the CTSC gene that encodes cathepsin C have been described in families affected with Papillon--Lefevre syndrome. Cathepsin C is the least understood of the lysosomal cysteine proteases; it has been reported to participate in both intracellular an …
Mutations in the CTSC gene that encodes cathepsin C have been described in families affected with Papillon--Lefevre syndrome. …
Confirmation of psoriasis susceptibility loci on chromosome 6p21 and 20p13 in French families.
Lesueur F, Lefèvre C, Has C, Guilloud-Bataille M, Oudot T, Mahé E, Lahfa M, Mansouri S, Mosharraf-Olmolk H, Sobel E, Heath S, Lathrop M, Dizier MH, Prud'Homme JF, Fischer J. Lesueur F, et al. Among authors: lefevre c. J Invest Dermatol. 2007 Jun;127(6):1403-9. doi: 10.1038/sj.jid.5700749. Epub 2007 Mar 8. J Invest Dermatol. 2007. PMID: 17344932 Free article.
496 results