| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_7c1fbde9b862337a2b1facec8e07d7aa
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_6115b7f4561db088f26a575e9339fed0
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_5d6fc88007fe6412e9a417266a94403f
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_a6b0a4a75b8a07ee057dff5387fc8ccc
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_b1b55417887511efde2a77e8ed8f435a
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_a2208e494e2d13a5286d99c93dbd11c9 |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/Y10T436-143333 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-4702
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K14-47
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
| filingDate |
2010-05-06-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_aef2d5318f6c8b6a6d699a95785d622a
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_5679dc98957a9d4e25d894410242d5be
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_5f2ec2974d5b441d4dea69da5fc41ee5
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_4a6b441d12d5e5b1c05b829e11792c22
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_bd44b7b569ddf391ceeddfb37c0243a2 |
| publicationDate |
2010-11-11-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
WO-2010129805-A1 |
| titleOfInvention |
Shoc2 mutations causing noonan-like syndrome with loose anagen hair |
| abstract |
The present invention is directed to methods of diagnosing Noonan-like syndrome with loose anagen hair comprising detecting a mutation in SHOC2 gene. One specific diagnostic mutation disclosed is an A-to-G transition at position 4 resulting in a mutation at position 2 of SHOC2 amino acid sequence from serine to glycine. The invention also provides related sequences and kits. |
| priorityDate |
2009-05-06-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |