VSX1Mutational Analysis in a Series of Italian Patients Affected by Keratoconus: Detection of a Novel Mutation
Investigative Ophthalmology & Visual Science2004Vol. 46(1), pp. 39–39
Citations Over TimeTop 10% of 2004 papers
Luigi Bisceglia, Marilena Ciaschetti, Patrizia De Bonis, Pablo Alberto Perafan Campo, Costantina Pizzicoli, Costanza Scala, Michele Grifa, Pio Ciavarella, Nicola Delle Noci, Filippo Vaira, Claudio Macaluso, Leopoldo Zelante
Abstract
Mutational analysis of the VSX1 gene in a series of Italian patients revealed one novel mutation and confirmed an important role played by this gene in a significant proportion of patients affected by keratoconus, when it is inherited as an autosomal dominant trait with variable expressivity and incomplete penetrance.
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