{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T05:03:48Z","timestamp":1784869428915,"version":"3.55.0"},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2007,5,18]],"date-time":"2007-05-18T00:00:00Z","timestamp":1179446400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2007,6]]},"abstract":"<jats:p>DNA analysis and mutation identification is useful for the diagnosis of familial hypercholesterolaemia (FH), particularly in the young and in other situations where clinical diagnosis may be difficult, and enables unambiguous identification of at\u2010risk relatives. Mutation screening of the whole of the three FH\u2010causing genes is costly and time consuming. We have tested the specificity and sensitivity of a recently developed multiplex amplification refractory mutation system assay of 11 low\u2010density lipoprotein receptor gene (<jats:italic>LDLR<\/jats:italic>) mutations, one <jats:italic>APOB<\/jats:italic> (p.R3527Q) and one <jats:italic>PCSK9<\/jats:italic> (p.D374Y) mutation in 400 patients attending 10 UK lipid clinics. The kit detected a mutation in 54 (14%) patients, and a complete screen of the <jats:italic>LDLR<\/jats:italic> gene using single\u2010stranded conformation polymorphism\/denaturing high performance liquid chromatography identified 59 different mutations (11 novel) in an additional 87 patients, for an overall detection rate of 35%. The kit correctly identified 38% of all detected mutations by the full screen, with no false\u2010positive or false\u2010negative results. In the patients with a clinical diagnosis of definite FH, the overall detection rate was higher (54\/110 = 49%), with the kit detecting 52% of the full\u2010screen mutations. Results can be obtained within a week of sample receipt, and the high detection rate and good specificity make this a useful initial DNA diagnostic test for UK patients.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2007.00807.x","type":"journal-article","created":{"date-parts":[[2007,5,19]],"date-time":"2007-05-19T16:34:06Z","timestamp":1179592446000},"page":"561-568","source":"Crossref","is-referenced-by-count":27,"title":["Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia"],"prefix":"10.1111","volume":"71","author":[{"given":"A","family":"Taylor","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Tabrah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Sozen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Duxbury","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Whittall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SE","family":"Humphries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Norbury","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,5,18]]},"reference":[{"key":"e_1_2_6_2_2","first-page":"1981","volume-title":"The metabolic basis of inherited disease","author":"Goldstein JL","year":"1995"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/pubmed\/fdh176"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.303.6807.893"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)03587-X"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-822989"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)92961-4"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9150(98)00200-7"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9150(93)90171-P"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1161"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/17.7.2503"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.038356"},{"issue":"2","key":"e_1_2_6_13_2","first-page":"320","article-title":"A non\u2010toxic and versatile protein salting\u2010out method for the isolation of DNA","volume":"17","author":"Laitinen J","year":"1994","journal-title":"Biotechniques"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200633"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570231"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)12:1<1::AID-HUMU1>3.0.CO;2-M"},{"key":"e_1_2_6_17_2","unstructured":"Den DunnenJ.Human Genome Variation Society (HGVS) nomenclature for the description of sequence variations.2006 fromhttp:\/\/www.hgvs.org\/mutnomen."},{"key":"e_1_2_6_18_2","first-page":"1","article-title":"Allen M et al. 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