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Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus
ArticleAbstract: Keratoconus (KTCN), a non-inflammatory corneal disorder characterized by stromal thinning, representPalabras claves:DOCK9, IPO5, Keratoconus, keratoconus 13q32 locus, keratoconus gene, STK24Autores:Andrea Molinari, Bejjani B.A., Czugala M., Gajecka M., Karolak J.A., Nowak D.M., Pitarque J.A., Polakowski P., Rydzanicz M., Szaflik J.P., Yue B.Y.J.T.Fuentes:scopusVariant c.2262A>C in DOCK9 leads to exon skipping in keratoconus family
ArticleAbstract: PURPOSE. Keratoconus (KTCN) is a degenerative disorder of the eye that is characterized by a conicalPalabras claves:DOCK9, Exon skipping, Keratoconus, Keratoconus genetics, Splicing alteration, Splicing assayAutores:Andrea Molinari, Bejjani B.A., Gajecka M., Ginter-Matuszewska B., Karolak J.A., Pitarque J.A., Rydzanicz M.Fuentes:scopusSubstitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial Keratoconus
ArticleAbstract: PURPOSE. Keratoconus (KTCN) is a thinning and anterior protrusion of the cornea that results in altePalabras claves:Autores:Andrea Molinari, Bejjani B.A., Gajecka M., Gut M., Karolak J.A., Kubiak J., Nowak D.M., Pitarque J.A.Fuentes:scopus