{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T23:02:42Z","timestamp":1773270162911,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2006,6,8]],"date-time":"2006-06-08T00:00:00Z","timestamp":1149724800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2006,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    X\u2010linked \u03b1\u2010thalassemia\/mental retardation syndrome (ATR\u2010X, OMIM 301040) is a syndromic form of X\u2010linked mental retardation (XLMR). It is caused by a mutation in the\n                    <jats:italic>ATRX<\/jats:italic>\n                    gene, which is also involved in other syndromic forms of XLMR as well as in non\u2010syndromic XLMR, both in males and in females. To analyze the full range of disease\u2010causing mutations for genetic counseling and to establish phenotype\u2013genotype correlations, we have established a new screening method for mutations in the\n                    <jats:italic>ATRX<\/jats:italic>\n                    gene, which uses mismatch\u2010specific endonuclease. We applied this method to confirm 13 known mutations in our patients, some of which have been difficult to be demonstrated by conventional denaturing high\u2010performance liquid chromatography. Furthermore, we found four additional mutations in four ATR\u2010X patients whose clinical diagnosis had not been confirmed at the molecular level. In this method, experimental conditions do not need to be altered depending on mutation sites, and it should be the alternative method for mutation screening. \u00a9 2006 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.31310","type":"journal-article","created":{"date-parts":[[2006,6,8]],"date-time":"2006-06-08T13:02:32Z","timestamp":1149771752000},"page":"1519-1523","source":"Crossref","is-referenced-by-count":14,"title":["A new detection method for\n                    <i>ATRX<\/i>\n                    gene mutations using a mismatch\u2010specific endonuclease"],"prefix":"10.1002","volume":"140A","author":[{"given":"Takahito","family":"Wada","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshimitsu","family":"Fukushima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinji","family":"Saitoh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,6,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20177"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10183"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2005.052407"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1515\/CCLM.2003.068"},{"key":"e_1_2_6_6_1","first-page":"747","volume-title":"Inborn errors on development","author":"Gibbons RJ","year":"2004"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097-146"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200001)47:1<117::AID-ANA20>3.0.CO;2-A"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/26.20.4597"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.12.1899"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.2144\/04364PF01"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-09-3360"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000918)94:3<242::AID-AJMG11>3.0.CO;2-K"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30901"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2005.09.005"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1130"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10446"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31310","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31310","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T16:12:56Z","timestamp":1696954376000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31310"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,6,8]]},"references-count":16,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2006,7,15]]}},"alternative-id":["10.1002\/ajmg.a.31310"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31310","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.14254.471752","asserted-by":"object"}]},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,6,8]]}}}