{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T18:46:17Z","timestamp":1792521977215,"version":"4.5.0"},"reference-count":38,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"6135","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[2013,5,24]]},"abstract":"<jats:title>Spleen Knockout Explained<\/jats:title>\n                  <jats:p>\n                    Isolated congenital asplenia (ICA) is a rare disorder where patients are born without a spleen and are at increased risk of bacterial infection but have no other developmental abnormalities. Through sequence analysis of familial and sporadic cases,\n                    <jats:bold>\n                      Bolze\n                      <jats:italic>et al.<\/jats:italic>\n                    <\/jats:bold>\n                    (p.\n                    <jats:related-article xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"doi\" issue=\"6135\" page=\"976\" related-article-type=\"in-this-issue\" vol=\"340\" xlink:href=\"10.1126\/science.1234864\">976<\/jats:related-article>\n                    , published online 11 April) found that ICA patients carry mutations in the gene encoding ribosomal protein SA and as a result express about half the normal amount of this protein. The mechanism by which reduced expression of a housekeeping protein causes an organ-specific defect remains unclear.\n                  <\/jats:p>","DOI":"10.1126\/science.1234864","type":"journal-article","created":{"date-parts":[[2013,4,11]],"date-time":"2013-04-11T23:50:28Z","timestamp":1365724228000},"page":"976-978","source":"Crossref","is-referenced-by-count":189,"title":["Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia"],"prefix":"10.1126","volume":"340","author":[{"given":"Alexandre","family":"Bolze","sequence":"first","affiliation":[{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY 10065, USA."},{"name":"University Paris Descartes, Sorbonne Paris Cit\u00e9, Imagine Institute, 75006 Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nizar","family":"Mahlaoui","sequence":"additional","affiliation":[{"name":"Pediatric Hematology-Immunology and Rheumatology 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