{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T17:54:01Z","timestamp":1789408441618,"version":"build-2803163510"},"reference-count":0,"publisher":"The Endocrine Society","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"published-print":{"date-parts":[[1994,3]]},"DOI":"10.1210\/jcem.78.3.8126127","type":"journal-article","created":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T16:58:32Z","timestamp":1389200312000},"page":"561-567","source":"Crossref","is-referenced-by-count":4,"title":["Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency."],"prefix":"10.1210","volume":"78","author":[{"given":"R","family":"Sanchez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Rh\u00e9aume","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Laflamme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R L","family":"Rosenfield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Labrie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Simard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/78\/3\/561\/10503347\/jcem0561.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,25]],"date-time":"2017-08-25T03:37:27Z","timestamp":1503632247000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article-lookup\/doi\/10.1210\/jcem.78.3.8126127"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,3]]},"references-count":0,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1994,3]]}},"alternative-id":["10.1210\/jcem.78.3.8126127"],"URL":"https:\/\/doi.org\/10.1210\/jcem.78.3.8126127","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,3]]}}}