{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T00:10:22Z","timestamp":1696983022547},"reference-count":11,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,5,2]],"date-time":"2006-05-02T00:00:00Z","timestamp":1146528000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int J Immunogenetics"],"published-print":{"date-parts":[[2006,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>X\u2010linked agammaglobulinaemia (XLA) is an immunodeficiency caused by Bruton tyrosine kinase (BTK) gene mutations. The disease is characterized by recurrent bacterial infections and profound hypogammaglobulinemia with marked reduction or lack of mature B\u2010cells in the peripheral blood. Molecular characterization of BTK gene provides an opportunity for definitive diagnosis of XLA patients, especially for those with atypical phenotype resulting in a milder or late\u2010onset form of the disease. The diagnosis allows accurate carrier detection with subsequent genetic counselling and prenatal diagnosis. In this study, long polymerase chain reaction (PCR)\u2010direct sequencing analysis of the BTK gene in 12 unrelated Chinese XLA patients had been performed. Eight recurrent mutations and four novel mutations were identified. This is the first report of Chinese cases from three different East Asia regions together, including Hong Kong, Singapore and mainland China. Future clinical and genetic information from the undiagnosed Chinese XLA patients may provide insight into the genotype\u2013phenotype correlations of BTK gene.<\/jats:p>","DOI":"10.1111\/j.1744-313x.2006.00598.x","type":"journal-article","created":{"date-parts":[[2006,5,2]],"date-time":"2006-05-02T18:10:22Z","timestamp":1146593422000},"page":"205-209","source":"Crossref","is-referenced-by-count":14,"title":["Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X\u2010linked agammaglobulinaemia by long PCR\u2010direct sequencing"],"prefix":"10.1111","volume":"33","author":[{"given":"K\u2010W.","family":"Chan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. 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