| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_aa970c74b44e3835758dec17306e245f |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-16
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-158 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6858
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-686
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 |
| filingDate |
2022-01-14-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_5d441cd40b139f75fd066e7b72cc0826
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_9558a22de5816f96968a717a3d7ee9a7 |
| publicationDate |
2022-07-21-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
WO-2022155442-A1 |
| titleOfInvention |
Methods, compositions, and systems for detecting silent carriers of spinal muscular atrophy |
| abstract |
The present disclosure relates to methods, compositions, and systems for detecting silent carriers of spinal muscular atrophy (SMA). The methods comprise analyzing a nucleic acid sample for detecting the presence or absence of a target gene amplification product, e.g. SMN1 (2 + 0) genotype, by analyzing rs143838139 in the SMN1 gene amplification product to detect the presence of a T>G mutation. The analysis method may be TaqMan PCR. Also disclosed are systems and kits for carrying out embodiments of the methods or using the compositions disclosed herein. |
| priorityDate |
2021-01-15-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |