{"search_session":{},"preferences":{"l":"en","queryLanguage":"en"},"patentId":"071-152-320-996-344","frontPageModel":{"patentViewModel":{"ref":{"entityRefId":"071-152-320-996-344","entityRefType":"PATENT"},"entityMetadata":{"linkedIds":{"empty":true},"tags":[],"collections":[{"id":10797,"type":"PATENT","title":"University of Pittsburgh - Patent Portfolio","description":"","access":"OPEN_ACCESS","displayAvatar":true,"attested":false,"itemCount":8047,"tags":[],"user":{"id":91044780,"username":"Cambialens","firstName":"","lastName":"","created":"2015-05-04T00:55:26.000Z","displayName":"Cambialens","preferences":"{\"usage\":\"public\",\"beta\":false}","accountType":"PERSONAL","isOauthOnly":false},"notes":[{"id":8262,"type":"COLLECTION","user":{"id":91044780,"username":"Cambialens","firstName":"","lastName":"","created":"2015-05-04T00:55:26.000Z","displayName":"Cambialens","preferences":"{\"usage\":\"public\",\"beta\":false}","accountType":"PERSONAL","isOauthOnly":false},"text":"
Search Applicants and Owners separately: \"Univ* Pittsburgh\"
Select more for logical variants. Add to collection. Select all patents in the collection and expand by simple families. Add to collection. Total patents:5316
Search Applicants and Owners separately: \"Univ* Pittsburgh\"
Select more for logical variants. Add to collection. Select all patents in the collection and expand by simple families. Add to collection. Total patents:5316
contacting a nucleic acid sample obtained from a human patient with an oligonucleotide that specifically hybridizes to a mutant GJC2 nucleic acid comprising a T allele at position 953 of SEQ ID NO: 2 but not to a wild type GJC2 nucleic acid; and\n
detecting the T allele at position 953 of SEQ ID NO: 2 in the sample when a hybrid is formed between the oligonucleotide and the mutant GJC2 nucleic acid."],"number":1,"annotation":false,"claim":true,"title":false},{"lines":["The method of claim 1 wherein the oligonucleotide is utilized in a detection method selected from the group consisting of microarray methods, sequencing methods, hybridization methods, and amplification methods."],"number":2,"annotation":false,"claim":true,"title":false},{"lines":["A method of identifying a functional mutation in Cx47, comprising:\n
isolating a portion of GJC2 encoding a mutation in SEQ ID NO: 1 from a human patient with lymphedema;\n
introducing into a cell the portion of GJC2 encoding a mutation in SEQ ID NO: 1;\n
performing one or more of a plaque assay, an electric coupling assay, a wound assay and a dye spread assay on the cell; and\n
determining that the mutation in GJC2 results in a functional mutation in Cx47 when the mutation alters gap junction function as measured by two or more of the assays compared to a cell comprising a sequence encoding SEQ ID NO: 1."],"number":3,"annotation":false,"claim":true,"title":false}]}},"filters":{"npl":[],"notNpl":[],"applicant":[],"notApplicant":[],"inventor":[],"notInventor":[],"owner":[],"notOwner":[],"tags":[],"dates":[],"types":[],"notTypes":[],"j":[],"notJ":[],"fj":[],"notFj":[],"classIpcr":[],"notClassIpcr":[],"classNat":[],"notClassNat":[],"classCpc":[],"notClassCpc":[],"so":[],"notSo":[],"sat":[]},"sequenceFilters":{"s":"SEQIDNO","d":"ASCENDING","p":0,"n":10,"sp":[],"si":[],"len":[],"t":[],"loc":[]}}