| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_d6559372bde7c7c71d22286457328c86
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_0ca0841c52dc980c3f201762d410f79b |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6886
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61N5-00
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K31-506
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K45-06 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K31-506
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61N5-00
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K45-06
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6886 |
| filingDate |
2017-10-20-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| grantDate |
2018-12-18-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a1881c23d36d3cbd3c2acc649fa0817e
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_5f7a904cd293229df93de943354cd524
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_c5852f87a0a9bcf3d2f7e975c52aeffd |
| publicationDate |
2018-12-18-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
US-10155995-B2 |
| titleOfInvention |
Mutations in PDGFRB and NOTCH3 as causes of autosomal dominant infantile myofibromatosis |
| abstract |
This invention relates to a method of diagnosing a subject as having and/or being a carrier for infantile myofibromatosis. This method involves providing an isolated biological sample from a subject; contacting the sample with one or more reagents suitable for detecting the presence or absence of one or more mutations in PDGFRB and/or NOTCH3; detecting, in the sample, the presence or absence of the one or more mutations in PDGFRB and/or NOTCH3 based on said contacting; and diagnosing the subject as having and/or being a carrier for infantile myofibromatosis based on said detecting, where the presence of the one or more mutations in PDGFRB and/or NOTCH3 indicates the subject has a mutation that causes infantile myofibromatosis. Also disclosed is a method of treating a subject having infantile myofibromatosis and a method of preventing or treating symptoms associated with infantile myofibromatosis. |
| priorityDate |
2013-04-22-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |