{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T22:37:10Z","timestamp":1773009430647,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,6,25]],"date-time":"2024-06-25T00:00:00Z","timestamp":1719273600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2024,8]]},"DOI":"10.1111\/bjh.19593","type":"journal-article","created":{"date-parts":[[2024,6,25]],"date-time":"2024-06-25T09:13:56Z","timestamp":1719306836000},"page":"742-745","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["The compound pathogenic effects of a homozygous frameshift variant in the transmembrane region of <i>GP9<\/i>, causing Bernard\u2013Soulier syndrome, with a missense variant in <i>GP1BB<\/i>"],"prefix":"10.1111","volume":"205","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9260-9056","authenticated-orcid":false,"given":"Silvia","family":"Ferrari","sequence":"first","affiliation":[{"name":"Department of Medicine \u2013 DIMED Padova University Hospital  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Regazzo","sequence":"additional","affiliation":[{"name":"Department of Medicine \u2013 DIMED Padova University Hospital  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Cerbo","sequence":"additional","affiliation":[{"name":"Department of Medicine \u2013 DIMED Padova University Hospital  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Cortella","sequence":"additional","affiliation":[{"name":"Department of Medicine \u2013 DIMED Padova University Hospital  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonella","family":"Bertomoro","sequence":"additional","affiliation":[{"name":"Department of Medicine \u2013 DIMED Padova University Hospital  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Simioni","sequence":"additional","affiliation":[{"name":"Department of Medicine \u2013 DIMED Padova University Hospital  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,6,25]]},"reference":[{"key":"e_1_2_2_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V91.12.4397"},{"key":"e_1_2_2_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.15176"},{"key":"e_1_2_2_4_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2010.039883"},{"key":"e_1_2_2_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-46"},{"key":"e_1_2_2_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000320255"},{"key":"e_1_2_2_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V72.3.1086.bloodjournal7231086"},{"key":"e_1_2_2_8_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2000-9804"},{"key":"e_1_2_2_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2007.02785.x"},{"key":"e_1_2_2_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.589812"},{"key":"e_1_2_2_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.47.31449"},{"key":"e_1_2_2_12_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2010.032631"},{"key":"e_1_2_2_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)31574-0"},{"key":"e_1_2_2_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M600924200"},{"key":"e_1_2_2_15_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V69.5.1524.1524"},{"key":"e_1_2_2_16_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1649956"}],"container-title":["British Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bjh.19593","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,27]],"date-time":"2024-08-27T06:20:39Z","timestamp":1724739639000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/bjh.19593"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,25]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["10.1111\/bjh.19593"],"URL":"https:\/\/doi.org\/10.1111\/bjh.19593","archive":["Portico"],"relation":{},"ISSN":["0007-1048","1365-2141"],"issn-type":[{"value":"0007-1048","type":"print"},{"value":"1365-2141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,25]]},"assertion":[{"value":"2024-04-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-04","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-25","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}