{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T03:42:25Z","timestamp":1768448545356,"version":"3.49.0"},"reference-count":10,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2013,10,31]],"date-time":"2013-10-31T00:00:00Z","timestamp":1383177600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2013,10,31]],"date-time":"2013-10-31T00:00:00Z","timestamp":1383177600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neonatology"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>We cared for a neonate who had problematic hyperbilirubinemia born into a family where nine first-degree relatives had hereditary elliptocytosis (HE). As neonates, the nine relatives did not have any significant jaundice or anemia that was recognizable. Blood films on the proband suggested a diagnosis of pyropoikilocytosis. Analysis of the \u03b1-spectrin gene &lt;i&gt;(SPTA1)&lt;\/i&gt; in the proband revealed two previously reported low-frequency heterozygous polymorphisms of unknown clinical significance and the \u03b1&lt;sup&gt;LELY&lt;\/sup&gt; allele. In addition, a novel heterozygous mutation was identified in exon 2 of the \u03b2-spectrin gene &lt;i&gt;SPTB&lt;\/i&gt;. No mutations were identified in &lt;i&gt;ANK1&lt;\/i&gt; (ankyrin-1), &lt;i&gt;SLC4A1&lt;\/i&gt; (band 3),&lt;i&gt; EPB41&lt;\/i&gt; (band 4.1), or &lt;i&gt;EPB42&lt;\/i&gt; (band 4.2).<\/jats:p>","DOI":"10.1159\/000354884","type":"journal-article","created":{"date-parts":[[2013,10,30]],"date-time":"2013-10-30T09:59:21Z","timestamp":1383127161000},"page":"1-4","source":"Crossref","is-referenced-by-count":24,"title":["Variations in Both \u03b1-Spectrin &lt;b&gt;&lt;i&gt;(SPTA1)&lt;\/i&gt;&lt;\/b&gt; and \u03b2-Spectrin (&lt;b&gt;&lt;i&gt;SPTB&lt;\/i&gt;&lt;\/b&gt;) in a Neonate with Prolonged Jaundice in a Family where Nine Individuals Had Hereditary Elliptocytosis"],"prefix":"10.1159","volume":"105","author":[{"given":"Robert D.","family":"Christensen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto H.","family":"Nussenzveig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N. Scott","family":"Reading","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Archana M.","family":"Agarwal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josef T.","family":"Prchal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hassan M.","family":"Yaish","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2013,10,31]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1053%2Fj.seminhematol.2004.01.003"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1089%2Fgtmb.2010.0036"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2141.1975.tb02740.x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1203%2F00006450-198206000-00017"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1097%2FMPH.0b013e3180320b6f"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.79.6.2072"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2141.1997.572703.x"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038%2Fjp.2012.67"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.3324%2Fhaematol.13639"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.bcmd.2012.10.004"}],"container-title":["Neonatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/354884","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/354884","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:03:47Z","timestamp":1745431427000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000354884"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10,31]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2013,12,1]]},"published-print":{"date-parts":[[2013,12,17]]}},"URL":"https:\/\/doi.org\/10.1159\/000354884","archive":["Portico"],"relation":{},"ISSN":["1661-7800","1661-7819"],"issn-type":[{"value":"1661-7800","type":"print"},{"value":"1661-7819","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10,31]]}}}