Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome

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 characteriz...

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Veröffentlicht in:	Molecular vision 2009-04, Vol.15, p.801-809
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Collagen Type XVIII - genetics Collagen Type XVIII - metabolism Endostatins - genetics Endostatins - metabolism Enzyme-Linked Immunosorbent Assay Epithelium - metabolism Extracellular Matrix Proteins - metabolism Eye Diseases, Hereditary - genetics Immunohistochemistry Models, Molecular Mutation Sequence Analysis, DNA Skin - metabolism Syndrome
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