| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_c01e68e8b1394c5399d52cc94b2fafc6 |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6881
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6881
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12P19-34 |
| filingDate |
2019-02-25-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| grantDate |
2020-06-30-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a76f3b96c10bf468bddef93ab5fa1d15
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_7a7d07adba4a28c4296772a5cbc07133
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_5bce04451b0af94b018dded34b726223 |
| publicationDate |
2020-06-30-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
US-10697016-B2 |
| titleOfInvention |
Methods to detect a silent carrier genotype |
| abstract |
Provided herein are methods and compositions for the detection of silent carriers of chromosomal deletion alleles in a human subject using haploid cells (e.g., sperm cells or egg cells) derived from the subject. The methods provided herein allow for the detection of silent (2+0) carriers of SMA, where the individual has a deletion of the SMN1 gene on one chromosome 5 homolog and two or more copies of the SMN1 gene on the other chromosome 5 homolog. |
| priorityDate |
2014-11-14-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |