http://rdf.ncbi.nlm.nih.gov/pubchem/patent/EP-1842927-A1
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_ee54fdadd01b1868b126762f9120c3d2 |
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-172 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
| filingDate | 2007-02-21-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_201017af2eb09bfcfe81c18c321200ba http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_846e78d752bb55fc3d3383e04edf1a2f http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a5d92a3addeac242397ac7d1d0883e73 |
| publicationDate | 2007-10-10-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | EP-1842927-A1 |
| titleOfInvention | Methods for identification of Alport Syndrome |
| abstract | Animals with mutations in COL4α4 present with autosomal recessive Alport Syndrome (ARAS). Through sequencing of COL4α4, the mutation causative for ARAS in the English Cocker Spaniel (ECS) has been identified. The resulting protein is severely truncated due to a premature stop codon in exon 3. This nonsense mutation occurs in the 7S domain and also causes the loss of the entire collagenous and NC1 domains of the protein. Methods for the identification of animals that harbor a mutation in the COL4α4 gene are described. Mutations in the COL4α4 gene can be identified from any biological sample such as a cell or tissue that contains genomic DNA. Methods for identifying single nucleotide polymorphisms (SNPs) that are inherited with the disease are also described. A microsatellite marker that segregates with ARAS is also described that was identified using linkage disequilibrium mapping. |
| isCitedBy | http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-104212806-A |
| priorityDate | 2006-04-07-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 354.