{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T15:47:41Z","timestamp":1784735261610,"version":"3.55.0"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2001,12,20]],"date-time":"2001-12-20T00:00:00Z","timestamp":1008806400000},"content-version":"vor","delay-in-days":353,"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":[[2001,1]]},"abstract":"<jats:p>We describe a large Syrian\u2013Lebanese family who clinically manifest X\u2010linked thrombocytopenia (XLT). To date, five family members have undergone splenectomy with rapid and sustained normalization of their platelet numbers. Genomic analysis demonstrated that affected men in this cohort had the missense C168T (Thr45Met) mutation in exon 2 of the Wiskott\u2013Aldrich Syndrome protein (WASp) gene. Exon 2 is the commonest site for mutations associated with XLT and mild forms of WAS, and the C168T missense mutation is the most frequent. Detection of this mutation by restriction enzyme digestion provides an efficient screening test for prompt identification and for assessment of female carrier status.<\/jats:p>","DOI":"10.1046\/j.1365-2141.2001.02465.x","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:10:00Z","timestamp":1027678200000},"page":"76-80","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Missense C168T in the Wiskott\u2013Aldrich Syndrome protein gene is a common mutation in X\u2010linked thrombocytopenia"],"prefix":"10.1111","volume":"112","author":[{"given":"Lye Lin","family":"Ho","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliet","family":"Ayling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Prosser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry","family":"Kronenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry","family":"Iland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas","family":"Joshua","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2001,12,20]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1998.00756.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1098-1004(200004)15:4<386::aid-humu23>3.0.co;2-4"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90528-2"},{"key":"e_1_2_5_5_1","doi-asserted-by":"crossref","first-page":"1849","DOI":"10.1182\/blood.V72.6.1849.1849","article-title":"Hereditary X\u2010linked thrombocytopenia maps to the same chromosomal region as the Wiskott\u2013Aldrich syndrome","volume":"72","author":"Donner M.","year":"1988","journal-title":"Blood"},{"key":"e_1_2_5_6_1","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1182\/blood.V96.1.118","article-title":"Autosomal dominant thrombocytopenia. incomplete megakaryocyte differentiation and linkage to human chromosome 10","volume":"96","author":"Drachman J.G.","year":"2000","journal-title":"Blood"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V94.2.509"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.279.5350.509"},{"key":"e_1_2_5_9_1","unstructured":"Imai K.(2000) WASPbase: database of WASP gene mutations (WWW document). 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