{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:22:54Z","timestamp":1787016174207,"version":"build-2736575974"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,4,15]],"date-time":"2016-04-15T00:00:00Z","timestamp":1460678400000},"content-version":"vor","delay-in-days":14,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Transfusion"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:sec>\n                    <jats:title>BACKGROUND<\/jats:title>\n                    <jats:p>\n                      The Rhesus (Rh) complex consists of a core comprising the Rh proteins (RhD\/RhCE) and the Rh\u2010associated glycoprotein (RhAG) with accessory chains (GPB, LW, CD47). Molecular defects of the\n                      <jats:italic>RHAG<\/jats:italic>\n                      gene may cause a regulator Rh\n                      <jats:sub>null<\/jats:sub>\n                      phenotype without Rh antigen expression or a Rh\n                      <jats:sub>mod<\/jats:sub>\n                      phenotype with decreased Rh antigen expression.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>STUDY DESIGN AND METHODS<\/jats:title>\n                    <jats:p>Blood samples of a donor with strongly diminished Rh antigens and five family members were analyzed by serological phenotyping, flow cytometry, molecular testing, and gene expression analysis of Rh complex candidate genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS<\/jats:title>\n                    <jats:p>\n                      <jats:italic>RHAG<\/jats:italic>\n                      sequencing identified a missense mutation, c.241G&gt;C (p.Gly81Arg) and a splice site mutation,\n                      <jats:italic>c.640\u2009+\u20093del14<\/jats:italic>\n                      , among the cohort. Compound heterozygosity of these novel alleles identified in the propositus and two siblings gave rise to a strongly diminished expression of RhAG, Rh, and CD47 antigens on the RBC surface.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CONCLUSION<\/jats:title>\n                    <jats:p>\n                      The Rh\n                      <jats:sub>mod<\/jats:sub>\n                      phenotype was caused by a novel\n                      <jats:italic>RHAG<\/jats:italic>\n                      splice site mutation in association with a non\u2010functional allele. The primary depression of RhAG is most likely due to posttranslational events that affect the interaction and processing of the RhAG glycoprotein and gave rise to a secondary depression of RhD, RhCE, and CD47, the major members of the Rh complex.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/trf.13476","type":"journal-article","created":{"date-parts":[[2016,4,15]],"date-time":"2016-04-15T03:52:29Z","timestamp":1460692349000},"page":"950-955","source":"Crossref","is-referenced-by-count":11,"title":["Compound heterozygosity of two novel\n                    <i>RHAG<\/i>\n                    alleles leads to a considerable disruption of the Rh complex"],"prefix":"10.1111","volume":"56","author":[{"given":"Helene","family":"Polin","sequence":"first","affiliation":[{"name":"Red Cross Transfusion Service of Upper Austria Linz Austria"},{"name":"Ludwig Boltzmann Institute for Experimental and Clinical Traumatology Linz Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Pelc\u2010Klopotowska","sequence":"additional","affiliation":[{"name":"Institute of Hematology and Transfusion Medicine Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Danzer","sequence":"additional","affiliation":[{"name":"Red Cross Transfusion Service of Upper Austria Linz Austria"},{"name":"Ludwig Boltzmann Institute for Experimental and Clinical Traumatology Linz Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Suessner","sequence":"additional","affiliation":[{"name":"Red Cross Transfusion Service of Upper Austria Linz Austria"},{"name":"Ludwig Boltzmann Institute for Experimental and Clinical Traumatology Linz Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Gabriel","sequence":"additional","affiliation":[{"name":"Red Cross Transfusion Service of Upper 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