{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T04:47:07Z","timestamp":1697345227207},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2011,8,11]],"date-time":"2011-08-11T00:00:00Z","timestamp":1313020800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2011,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Several pediatric patients showing symptoms consistent with the Wiskott\u2013Aldrich syndrome (WAS) were referred to us and turned out to display the c.273+11dup change in the <jats:italic>WAS<\/jats:italic> gene. It consisted of the insertion of one C in an unusual tract of 7C near the intron 2 donor splicing site of the <jats:italic>WAS<\/jats:italic> gene. In the patients, non\u2010synonymous <jats:italic>WAS<\/jats:italic> mutations were found twice only and one mutation was elucidated in <jats:italic>RUNX1<\/jats:italic>. In the absence of a non\u2010synonymous mutation in the <jats:italic>WAS<\/jats:italic> gene, the c.273+11dup change affected neither the levels nor the sequence of <jats:italic>WAS<\/jats:italic> mRNA. In the presence of a non\u2010synonymous <jats:italic>WAS<\/jats:italic> mutation, the c.273+11dup alteration failed to worsen the expected phenotype. Minor splicing abnormalities concerning exon 10 were observed both in WAS patients, and in healthy individuals carrying or not carrying the c.273+11dup. The c.273+11dup change was encountered four times in 107 normal male and female controls (172 alleles tested: 2.3%), and eight times in a series of 248 male patients (248 alleles tested: 3.2%). We conclude that the presence of the additional C in the <jats:italic>WAS<\/jats:italic> gene is a functionally neutral polymorphism.<\/jats:p>","DOI":"10.1111\/j.1600-0609.2011.01674.x","type":"journal-article","created":{"date-parts":[[2011,6,30]],"date-time":"2011-06-30T13:31:02Z","timestamp":1309440662000},"page":"366-371","source":"Crossref","is-referenced-by-count":1,"title":["The c.273+11dup genetic change in the <i>WAS<\/i> gene is a functionally neutral polymorphism"],"prefix":"10.1111","volume":"87","author":[{"given":"Laurence","family":"Jeanson\u2010Leh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Charrier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexis","family":"Proust","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chrystele","family":"Bilhou\u2010Nab\u00e9ra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R\u00e9mi","family":"Favier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Deswarte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Bordigoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Galy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean","family":"Delaunay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,8,11]]},"reference":[{"key":"e_1_2_6_2_2","article-title":"Clinical spectrum, pathophysiology and treatment of the Wiskott\u2013Aldrich syndrome","author":"Albert MH","year":"2010","journal-title":"Curr Opin Hematol"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2008.10.007"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-12-115253"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1097\/MOH.0b013e3282f30448"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/nri2724"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/85886"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20062324"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2007.02.007"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.gt.3302863"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-10-3518"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1517\/14712598.8.2.181"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1003548"}],"container-title":["European Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1600-0609.2011.01674.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1600-0609.2011.01674.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,14]],"date-time":"2023-10-14T21:31:14Z","timestamp":1697319074000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1600-0609.2011.01674.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,8,11]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2011,10]]}},"alternative-id":["10.1111\/j.1600-0609.2011.01674.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1600-0609.2011.01674.x","archive":["Portico"],"relation":{},"ISSN":["0902-4441","1600-0609"],"issn-type":[{"value":"0902-4441","type":"print"},{"value":"1600-0609","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,8,11]]}}}