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CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update.
Nagy N, Vályi P, Csoma Z, Sulák A, Tripolszki K, Farkas K, Paschali E, Papp F, Tóth L, Fábos B, Kemény L, Nagy K, Széll M. Nagy N, et al. Among authors: farkas k. Mol Genet Genomic Med. 2014 May;2(3):217-28. doi: 10.1002/mgg3.61. Epub 2014 Feb 11. Mol Genet Genomic Med. 2014. PMID: 24936511 Free PMC article. Review.
The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.
Farkas K, Deák BK, Sánchez LC, Martínez AM, Corell JJ, Botella AM, Benito GM, López RR, Vanecek T, Kazakov DV, Kromosoeto JN, van den Ouweland AM, Varga J, Széll M, Nagy N. Farkas K, et al. BMC Genet. 2016 Feb 9;17:36. doi: 10.1186/s12863-016-0346-9. BMC Genet. 2016. PMID: 26861065 Free PMC article.
Delineating the genetic heterogeneity of OCA in Hungarian patients.
Fábos B, Farkas K, Tóth L, Sulák A, Tripolszki K, Tihanyi M, Németh R, Vas K, Csoma Z, Kemény L, Széll M, Nagy N. Fábos B, et al. Among authors: farkas k. Eur J Med Res. 2017 Jun 19;22(1):20. doi: 10.1186/s40001-017-0262-0. Eur J Med Res. 2017. PMID: 28629449 Free PMC article.
599 results