| http://purl.uniprot.org/citations/10802664 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10802664 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10802664 | http://www.w3.org/2000/01/rdf-schema#comment | "Specialized collagens and small leucine-rich proteoglycans (SLRPs) interact to produce the transparent corneal structure. In cornea plana, the forward convex curvature is flattened, leading to a decrease in refraction. A more severe, recessively inherited form (CNA2; MIM 217300) and a milder, dominantly inherited form (CNA1; MIM 121400) exist. CNA2 is a rare disorder with a worldwide distribution, but a high prevalence in the Finnish population. The gene mutated in CNA2 was assigned by linkage analysis to 12q (refs 4, 5), where there is a cluster of several SLRP genes. We cloned two additional SLRP genes highly expressed in cornea: KERA (encoding keratocan) in 12q and OGN (encoding osteoglycin) in 9q. Here we report mutations in KERA in 47 CNA2 patients: 46 Finnish patients are homozygous for a founder missense mutation, leading to the substitution of a highly conserved amino acid; and one American patient is homozygous for a mutation leading to a premature stop codon that truncates the KERA protein. Our data establish that mutations in KERA cause CNA2. CNA1 patients had no mutations in these proteoglycan genes."xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.org/dc/terms/identifier | "doi:10.1038/75664"xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.org/dc/terms/identifier | "doi:10.1038/75664"xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.uniprot.org/core/author | "Kucherlapati R."xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.uniprot.org/core/author | "Kucherlapati R."xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.uniprot.org/core/author | "Montgomery K.T."xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.uniprot.org/core/author | "Montgomery K.T."xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.uniprot.org/core/author | "de la Chapelle A."xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.uniprot.org/core/author | "de la Chapelle A."xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.uniprot.org/core/author | "Lau S."xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.uniprot.org/core/author | "Lau S."xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.uniprot.org/core/author | "Krahe R."xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.uniprot.org/core/author | "Krahe R."xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.uniprot.org/core/author | "Joensuu T."xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.uniprot.org/core/author | "Joensuu T."xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.uniprot.org/core/author | "Forsius H."xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.uniprot.org/core/author | "Forsius H."xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.uniprot.org/core/author | "Pellegata N.S."xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.uniprot.org/core/author | "Pellegata N.S."xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.uniprot.org/core/author | "Dieguez-Lucena J.L."xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.uniprot.org/core/author | "Dieguez-Lucena J.L."xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.uniprot.org/core/author | "Kivelae T."xsd:string |
| http://purl.uniprot.org/citations/10802664 | http://purl.uniprot.org/core/author | "Kivelae T."xsd:string |