{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T21:21:51Z","timestamp":1791148911805,"version":"4.1.0"},"reference-count":0,"publisher":"National Academy of Sciences","issue":"1","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1970,1]]},"abstract":"<jats:p>\n                    In women heterozygous for hypoxanthine guanine phosphoribosyl trasferase deficiency, the activity of this enzyme in the erythrocyte is usually normal. In a key kindred two such obligate heterozygotes were also heterozygous for glucose-6-phosphate dehydrogenase types\n                    <jats:italic>A<\/jats:italic>\n                    and\n                    <jats:italic>B<\/jats:italic>\n                    . The\n                    <jats:italic>AB<\/jats:italic>\n                    genotype was confirmed in one by assay of skin fibroblasts. Erythrocytes were exclusively of type\n                    <jats:italic>B<\/jats:italic>\n                    . These observations suggest the clonal origin of the hematopoietic system in these women from a primordial cell line with a single active\n                    <jats:italic>X<\/jats:italic>\n                    chromosome.\n                  <\/jats:p>","DOI":"10.1073\/pnas.65.1.214","type":"journal-article","created":{"date-parts":[[2006,5,31]],"date-time":"2006-05-31T02:17:55Z","timestamp":1149041875000},"page":"214-218","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":132,"title":["Hemizygous Expression of Glucose-6-Phosphate Dehydrogenase in Erythrocytes of Heterozygotes for the Lesch-Nyhan Syndrome"],"prefix":"10.1073","volume":"65","author":[{"given":"William L.","family":"Nyhan","sequence":"first","affiliation":[{"name":"DEPARTMENT OF PEDIATRICS, UNIVERSITY OF CALIFORNIA, SAN DIEGO (LA JOLLA)"},{"name":"DEPARTMENT OF PEDIATRICS, UNIVERSITY OF MIAMI, FLORIDA"},{"name":"DEPARTMENT OF PEDIATRICS, UNIVERSITY OF TEXAS, SOUTHWESTERN MEDICAL SCHOOL, DALLAS"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bohdan","family":"Bakay","sequence":"additional","affiliation":[{"name":"DEPARTMENT OF PEDIATRICS, UNIVERSITY OF CALIFORNIA, SAN DIEGO (LA JOLLA)"},{"name":"DEPARTMENT OF PEDIATRICS, UNIVERSITY OF MIAMI, FLORIDA"},{"name":"DEPARTMENT OF PEDIATRICS, UNIVERSITY OF TEXAS, SOUTHWESTERN MEDICAL SCHOOL, DALLAS"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James D.","family":"Connor","sequence":"additional","affiliation":[{"name":"DEPARTMENT OF PEDIATRICS, UNIVERSITY OF CALIFORNIA, SAN DIEGO (LA JOLLA)"},{"name":"DEPARTMENT OF PEDIATRICS, UNIVERSITY OF MIAMI, FLORIDA"},{"name":"DEPARTMENT OF PEDIATRICS, UNIVERSITY OF TEXAS, SOUTHWESTERN MEDICAL SCHOOL, DALLAS"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Marks","sequence":"additional","affiliation":[{"name":"DEPARTMENT OF PEDIATRICS, UNIVERSITY OF CALIFORNIA, SAN DIEGO (LA JOLLA)"},{"name":"DEPARTMENT OF PEDIATRICS, UNIVERSITY OF MIAMI, FLORIDA"},{"name":"DEPARTMENT OF PEDIATRICS, UNIVERSITY OF TEXAS, SOUTHWESTERN MEDICAL SCHOOL, DALLAS"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doman K.","family":"Keele","sequence":"additional","affiliation":[{"name":"DEPARTMENT OF PEDIATRICS, UNIVERSITY OF CALIFORNIA, SAN DIEGO (LA JOLLA)"},{"name":"DEPARTMENT OF PEDIATRICS, UNIVERSITY OF MIAMI, FLORIDA"},{"name":"DEPARTMENT OF PEDIATRICS, UNIVERSITY OF TEXAS, SOUTHWESTERN MEDICAL SCHOOL, DALLAS"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[1970,1]]},"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.65.1.214","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T10:46:36Z","timestamp":1649846796000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.65.1.214"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1970,1]]},"references-count":0,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1970,1]]}},"alternative-id":["10.1073\/pnas.65.1.214"],"URL":"https:\/\/doi.org\/10.1073\/pnas.65.1.214","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[1970,1]]},"assertion":[{"value":"1970-01-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}