| http://purl.uniprot.org/citations/2474822 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/2474822 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/2474822 | http://www.w3.org/2000/01/rdf-schema#comment | "The mutations in X chromosome-linked diseases are frequently heterogeneous, and yet only a small fraction can be detected by Southern analysis. We therefore adapted the chemical cleavage method of Cotton et al. [Cotton, R. G. H., Rodrigues, N. R. & Campbell, R. D. (1988) Proc. Natl. Acad. Sci. USA 85, 4397-4401] and the polymerase chain reaction to rapidly scan for point mutations in X chromosome-linked ornithine transcarbamoylase (carbamoyl-phosphate: L-ornithine carbamoyltransferase, EC 2.1.3.3.) deficiency. This simple heteroduplex mapping method identified different mismatch sites in polymerase chain reaction-amplified liver cDNA from five unrelated ornithine transcarbamoylase-deficient patients. The predicted sequence alteration was confirmed by DNA sequencing in all five patients and indicated a likely disease-causing mutation in four of these patients. In one atypical ornithine transcarbamoylase-deficient patient a sequence alteration compatible with a cDNA polymorphism was found. One family was studied in detail. Female-carrier detection was performed by chemical cleavage of amplified genomic DNA and verified by allele-specific oligonucleotide hybridization. This mutation scanning approach is simple, sensitive, and applicable to many genetic loci."xsd:string |
| http://purl.uniprot.org/citations/2474822 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.86.15.5888"xsd:string |
| http://purl.uniprot.org/citations/2474822 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.86.15.5888"xsd:string |
| http://purl.uniprot.org/citations/2474822 | http://purl.uniprot.org/core/author | "Muzny D.M."xsd:string |
| http://purl.uniprot.org/citations/2474822 | http://purl.uniprot.org/core/author | "Muzny D.M."xsd:string |
| http://purl.uniprot.org/citations/2474822 | http://purl.uniprot.org/core/author | "Caskey C.T."xsd:string |
| http://purl.uniprot.org/citations/2474822 | http://purl.uniprot.org/core/author | "Caskey C.T."xsd:string |
| http://purl.uniprot.org/citations/2474822 | http://purl.uniprot.org/core/author | "Grompe M."xsd:string |
| http://purl.uniprot.org/citations/2474822 | http://purl.uniprot.org/core/author | "Grompe M."xsd:string |
| http://purl.uniprot.org/citations/2474822 | http://purl.uniprot.org/core/date | "1989"xsd:gYear |
| http://purl.uniprot.org/citations/2474822 | http://purl.uniprot.org/core/date | "1989"xsd:gYear |
| http://purl.uniprot.org/citations/2474822 | http://purl.uniprot.org/core/name | "Proc. Natl. Acad. Sci. U.S.A."xsd:string |
| http://purl.uniprot.org/citations/2474822 | http://purl.uniprot.org/core/name | "Proc. Natl. Acad. Sci. U.S.A."xsd:string |
| http://purl.uniprot.org/citations/2474822 | http://purl.uniprot.org/core/pages | "5888-5892"xsd:string |
| http://purl.uniprot.org/citations/2474822 | http://purl.uniprot.org/core/pages | "5888-5892"xsd:string |
| http://purl.uniprot.org/citations/2474822 | http://purl.uniprot.org/core/title | "Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage."xsd:string |
| http://purl.uniprot.org/citations/2474822 | http://purl.uniprot.org/core/title | "Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage."xsd:string |
| http://purl.uniprot.org/citations/2474822 | http://purl.uniprot.org/core/volume | "86"xsd:string |
| http://purl.uniprot.org/citations/2474822 | http://purl.uniprot.org/core/volume | "86"xsd:string |
| http://purl.uniprot.org/citations/2474822 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/2474822 |
| http://purl.uniprot.org/citations/2474822 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/2474822 |
| http://purl.uniprot.org/citations/2474822 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/2474822 |
| http://purl.uniprot.org/citations/2474822 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/2474822 |