Article
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.
Molecular vision - 1 Jan 2009
Suzuki Oscar, Kague Erika, Bagatini Kelly, Tu Hongmin, Heljasvaara Ritva, Carvalhaes Lorenza, Gava Elisandra, de Oliveira Gisele, Godoi Paulo, Oliva Glaucius, Kitten Gregory, Pihlajaniemi Taina, Passos-Bueno Maria-Rita
Abstract excerpt
PURPOSE: To facilitate future diagnosis of Knobloch syndrome (KS) and better understand its etiology, we sought to identify not yet described COL18A1 mutations in KS patients. In addition, we tested whether mutations in this gene lead to absence of the COL18A1 gene product and attempted to better characterize the functional effect of a previously reported missense mutation. METHODS: Direct sequencing of COL18A1...
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