VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. - Wikidata - awgldk - TriplyDB

VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.

VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.

http://www.wikidata.org/entity/Q34380348

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Genetics in Keratoconus: where are we?The pathogenesis of keratoconus Nonrandom Distribution of miRNAs Genes and Single Nucleotide Variants in Keratoconus Loci.Familial segregation of a VSX1 mutation adds a new dimension to its role in the causation of keratoconus.VSX1 and SOD1 Mutation Screening in Patients with Keratoconus in the South of Iran.Molecular analysis of the VSX1 gene in familial keratoconus Genetics of keratoconus: where do we stand?Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.VSX1 gene analysis in keratoconus Keratoconus associated with congenital stationary night blindness type 1.Keratoconus associated with CSNB1.Investigation of VSX1 sequence variants in South Indian patients with sporadic cases of keratoconus.Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus Gene therapy in keratoconus First identification of a triple corneal dystrophy association: keratoconus, epithelial basement membrane corneal dystrophy and fuchs' endothelial corneal dystrophy Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus Mutation analysis of VSX1 and SOD1 in Iranian patients with keratoconus Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India.Case-control association between CCT-associated variants and keratoconus in a Saudi Arabian population A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes.Screening the visual system homeobox 1 gene in keratoconus and posterior polymorphous dystrophy cohorts identifies a novel variant Interleukin 1 beta promoter polymorphism is associated with keratoconus in a Japanese population.An association between the calpastatin (CAST) gene and keratoconus Genetic architecture of natural variation in visual senescence in Drosophila.Association of the hepatocyte growth factor gene with keratoconus in an Australian population A novel VSX1 mutation identified in an individual with keratoconus in India Classification of posterior polymorphous corneal dystrophy as a corneal ectatic disorder following confirmation of associated significant corneal steepening.Genomic strategies to understand causes of keratoconus.Update on the keratoconus genetics.Insights into keratoconus from a genetic perspective.The Genetics of Keratoconus: A Review.Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.Genetic modifiers as relevant biological variables of eye disorders.Absence of Vsx1 expression in the normal and damaged mouse cornea.The genetic and environmental factors for keratoconus.Genetics in Keratoconus - What is New?Analysis of the VSX1 gene in sporadic keratoconus patients from China.Screening of the Seed Region of MIR184 in Keratoconus Patients from Saudi Arabia.Common single nucleotide polymorphisms and keratoconus in the Han Chinese population.

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P2860

VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.

http://www.wikidata.org/entity/Q34380348

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2005 nî lūn-bûn

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Claudio Macaluso

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Costantina Pizzicoli

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Costanza Scala

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Filippo Vaira

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Leopoldo Zelante

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Marilena Ciaschetti

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Michele Grifa

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Nicola Delle Noci

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Pablo Alberto Perafan Campo

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Patrizia De Bonis

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10.1167/IOVS.04-0533

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Luigi Bisceglia

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8106685

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