{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T11:54:43Z","timestamp":1791287683883,"version":"4.1.0"},"reference-count":0,"publisher":"National Academy of Sciences","issue":"21","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1990,11]]},"abstract":"<jats:p>Affected members of most kindreds with Albright hereditary osteodystrophy have a partial deficiency of functional Gs, the guanine nucleotide-binding protein that stimulates adenylyl cyclase. By use of the polymerase chain reaction to amplify genomic fragments with the attachment of a high-melting G + C-rich region (GC clamp) and analysis of these fragments by denaturing gradient gel electrophoresis, heterozygous mutations in the Gs alpha-subunit gene were found in two kindreds. These included a G----C substitution at the donor splice junction of intron 10 and a coding frameshift created by a single base deletion within exon 10. The findings illustrate the heterogeneity of genetic defects in Albright hereditary osteodystrophy and the usefulness of the polymerase chain reaction-denaturing gradient gel electrophoresis method to search rapidly for mutations in a large candidate gene.<\/jats:p>","DOI":"10.1073\/pnas.87.21.8287","type":"journal-article","created":{"date-parts":[[2006,5,31]],"date-time":"2006-05-31T07:30:10Z","timestamp":1149060610000},"page":"8287-8290","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":200,"title":["Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis."],"prefix":"10.1073","volume":"87","author":[{"given":"L S","family":"Weinstein","sequence":"first","affiliation":[{"name":"Molecular Pathophysiology Branch, National Institute of Diabetes, Digestive and Kidney Diseases, Bethesda, MD 20892."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P V","family":"Gejman","sequence":"additional","affiliation":[{"name":"Molecular Pathophysiology Branch, National Institute of Diabetes, Digestive and Kidney Diseases, Bethesda, MD 20892."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Friedman","sequence":"additional","affiliation":[{"name":"Molecular Pathophysiology Branch, National Institute of Diabetes, Digestive and Kidney Diseases, Bethesda, MD 20892."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Kadowaki","sequence":"additional","affiliation":[{"name":"Molecular Pathophysiology Branch, National Institute of Diabetes, Digestive and Kidney Diseases, Bethesda, MD 20892."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R M","family":"Collins","sequence":"additional","affiliation":[{"name":"Molecular Pathophysiology Branch, National Institute of Diabetes, Digestive and Kidney Diseases, Bethesda, MD 20892."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E S","family":"Gershon","sequence":"additional","affiliation":[{"name":"Molecular Pathophysiology Branch, National Institute of Diabetes, Digestive and Kidney Diseases, Bethesda, MD 20892."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A M","family":"Spiegel","sequence":"additional","affiliation":[{"name":"Molecular Pathophysiology Branch, National Institute of Diabetes, Digestive and Kidney Diseases, Bethesda, MD 20892."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[1990,11]]},"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.87.21.8287","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T13:15:08Z","timestamp":1649855708000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.87.21.8287"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,11]]},"references-count":0,"journal-issue":{"issue":"21","published-print":{"date-parts":[[1990,11]]}},"alternative-id":["10.1073\/pnas.87.21.8287"],"URL":"https:\/\/doi.org\/10.1073\/pnas.87.21.8287","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,11]]},"assertion":[{"value":"1990-11-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}