http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CA-2312472-C
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_3873abaff397acbfffa1595a12cfef41 |
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-118 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N5-10 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-02 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-12 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A01K67-027 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
| filingDate | 1998-12-07-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| grantDate | 2013-11-12-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_8b9976466c3ab666309d26cd2df262ec http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_7544e647215b1c557e46e3f2c026a63a |
| publicationDate | 2013-11-12-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | CA-2312472-C |
| titleOfInvention | Short gcg expansions in the pab ii gene for oculopharyngeal muscular dystrophy and diagnostic thereof |
| abstract | The present invention relates to a human PAB II gene containing transcribed polymorphic GCG repeat, which comprises a sequence as set forth in SEQ ID NO:3, which includes introns and flanking genomic sequence. The allelic variants of GCG repeat of the human PAB II gene are associated with a disease related with protein accumulation in nucleus, such as polyalanine accumulation, a disease related with swallowing difficulties, such as oculopharyngeal muscular dystrophy. The present invention also relates to a method for the diagnosis of a disease with protein accumulation in nucleus, which comprises the steps of: a) obtaining a nucleic acid sample of said patient; and b) determining allelic variants of GCG repeat of the gene of claim 1, and wherein long allelic variants are indicative of a disease related with protein accumulation in nucleus. |
| priorityDate | 1997-12-09-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 66.