| http://purl.uniprot.org/citations/8281143 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8281143 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8281143 | http://www.w3.org/2000/01/rdf-schema#comment | "Mice carrying a retroviral insert in both alleles of the Mpv17 gene develop glomerulosclerosis and nephrotic syndrome at young age. Thus, the Mpv17 gene is a recessive disease gene in mice and this mouse strain is a potential animal model for glomerular diseases in man. We here describe the isolation and analysis of a human homolog of this gene. By interspecies hybridisation cDNA clones representing a single RNA species were isolated from human liver. Sequence analysis revealed over 90% identify in a region coding for a protein of 176 amino acids and unknown function in both species. Cloning of the genomic locus revealed a single copy gene which we mapped to the short arm of chromosome 2 at band 2p23-p21. Determination of the intron-exon structure and the junction sequences enabled us to establish a PCR based procedure to isolate the coding region from human genomic DNA. Thus, it is now possible to analyse patients suffering from candidate diseases on the basis of a blood sample if biopsy material is not available."xsd:string |
| http://purl.uniprot.org/citations/8281143 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/2.11.1829"xsd:string |
| http://purl.uniprot.org/citations/8281143 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/2.11.1829"xsd:string |
| http://purl.uniprot.org/citations/8281143 | http://purl.uniprot.org/core/author | "Francke U."xsd:string |
| http://purl.uniprot.org/citations/8281143 | http://purl.uniprot.org/core/author | "Francke U."xsd:string |
| http://purl.uniprot.org/citations/8281143 | http://purl.uniprot.org/core/author | "Hsieh C.L."xsd:string |
| http://purl.uniprot.org/citations/8281143 | http://purl.uniprot.org/core/author | "Hsieh C.L."xsd:string |
| http://purl.uniprot.org/citations/8281143 | http://purl.uniprot.org/core/author | "Lichter P."xsd:string |
| http://purl.uniprot.org/citations/8281143 | http://purl.uniprot.org/core/author | "Lichter P."xsd:string |
| http://purl.uniprot.org/citations/8281143 | http://purl.uniprot.org/core/author | "Weiher H."xsd:string |
| http://purl.uniprot.org/citations/8281143 | http://purl.uniprot.org/core/author | "Weiher H."xsd:string |
| http://purl.uniprot.org/citations/8281143 | http://purl.uniprot.org/core/author | "Reuter A."xsd:string |
| http://purl.uniprot.org/citations/8281143 | http://purl.uniprot.org/core/author | "Reuter A."xsd:string |
| http://purl.uniprot.org/citations/8281143 | http://purl.uniprot.org/core/author | "Fink T."xsd:string |
| http://purl.uniprot.org/citations/8281143 | http://purl.uniprot.org/core/author | "Fink T."xsd:string |
| http://purl.uniprot.org/citations/8281143 | http://purl.uniprot.org/core/author | "Karasawa M."xsd:string |
| http://purl.uniprot.org/citations/8281143 | http://purl.uniprot.org/core/author | "Karasawa M."xsd:string |
| http://purl.uniprot.org/citations/8281143 | http://purl.uniprot.org/core/author | "Zwacka R.M."xsd:string |
| http://purl.uniprot.org/citations/8281143 | http://purl.uniprot.org/core/author | "Zwacka R.M."xsd:string |
| http://purl.uniprot.org/citations/8281143 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/8281143 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/8281143 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/8281143 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |