| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_7c1fbde9b862337a2b1facec8e07d7aa
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_b1b55417887511efde2a77e8ed8f435a
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_2a819eda0adf22936a52362eeebb9fb4
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_a2208e494e2d13a5286d99c93dbd11c9
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_0ca0841c52dc980c3f201762d410f79b
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_5d6fc88007fe6412e9a417266a94403f
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_a6b0a4a75b8a07ee057dff5387fc8ccc |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/Y10T436-143333
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-4702 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K5-00 |
| filingDate |
2010-05-06-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| grantDate |
2014-08-19-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a7e612bf069111fda904fcfff0c9b6c1
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_6b7907f96af2f939f7444917af288dec
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_240a379ff949fb371273f47be0f0be2d
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_44c3b51f65c591c2fa72e446a6003bb7
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_29fe477849a99cd8fb6b600c01340f2e |
| publicationDate |
2014-08-19-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
US-8808992-B2 |
| 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 |