Predicate |
Object |
assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_588f4799eeda38576f3d4784cef85ded http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_2e3830f35387a1c32061dea3ee310851 |
classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/Y10S436-811 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/C12Q1-683 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-68 |
classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
filingDate |
1990-03-14-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
grantDate |
1992-04-21-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_4ae795545bf5ea666161f5cb05dfd801 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_efdbb1c3a7e75f4390a4e8f5b95a970f http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_84a6ed3f2311635f18b739de82a26b68 |
publicationDate |
1992-04-21-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber |
US-5106728-A |
titleOfInvention |
Callier diagnostic method for agammaglobulinemia and carrier screening method for X linked severe combined immunodeficiency |
abstract |
There is provide by the invention a method of diagnosing a human female suspected of being an symptomatic carrier of X-linked agammaglobulinemia (XLA). The method comprises sampling B cell lymphocytes of said female; and determining whether at least 95% of said B cell lymphocytes exhibit inactivation of the same chromosome; whereby said X chromosome inactivation is diagnostic of XLA. The invention further provides a method of screening a human female suspected of being an asymptomatic carrier of X-linked severe combined immunodeficiency (XSCID). The method comprises sampling the B or T cell lymphocytes of said female; determining whether at least 85% of said lymphocytes exhibit inactivation of the same chromosome; whereby said X chromosome inactivation is associated with XSCID. |
isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/EP-0679191-A4 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-5912173-A http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-111206092-A http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-111206092-B http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-5518880-A http://rdf.ncbi.nlm.nih.gov/pubchem/patent/EP-0679191-A1 |
priorityDate |
1986-07-03-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type |
http://data.epo.org/linked-data/def/patent/Publication |