{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T12:31:00Z","timestamp":1762864260819},"reference-count":95,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[1999,6,1]],"date-time":"1999-06-01T00:00:00Z","timestamp":928195200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1999,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Automated mutation analysis brings with it a vastly increased capacity in the number of test samples that can be processed at a time, as well as much improved test reproducibility. Until now, the introduction of automation into this field had been restricted to the use of semiautomated sequencing systems to make the most of the sequence information extractable from a single lane in an electrophoretic gel or in a polymer\u2010filled glass capillary. Much effort is now being directed into harnessing the potential of DNA microarrays (DNA chips) and there is increasing interest in the potential of matrix\u2010assisted mass spectrometry for determining the detail of large nucleic acid molecules. Meanwhile, there are other important recent developments already available, including robotic workstations, the further development of the allele\u2010specific oligonucleotide assay into microtitre formats, and its use with fluorescence for real\u2010time quantitative PCR analysis. Implementation of these developments in appropriate settings can further streamline the routine of molecular diagnostic laboratories, allowing them to take greater advantage of the recent surge of gene discoveries and their associated disease\u2010causing mutations.<\/jats:p>","DOI":"10.1023\/a:1005508324048","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T22:31:09Z","timestamp":1040509869000},"page":"503-518","source":"Crossref","is-referenced-by-count":13,"title":["Automated mutation analysis"],"prefix":"10.1002","volume":"22","author":[{"given":"D.","family":"Ravine","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics University of Wales College of Medicine  Heath Park Cardiff CF4 4XN UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1999,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/368474a0"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.11.4593"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt1096-1279"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/41.11.1599"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/43.7.1151"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1367-5931(98)80016-1"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1657720"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.274.5287.610"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.23.9178"},{"key":"e_1_2_1_11_1","volume-title":"Mutation Detection","author":"Cotton RGH","year":"1997"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.12.4397"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1996)7:3<244::AID-HUMU9>3.0.CO;2-A"},{"key":"e_1_2_1_14_1","first-page":"193","article-title":"Selecting PCR designed mismatch primers to create diagnostic restriction sites","volume":"8","author":"Davidow LS","year":"1992","journal-title":"Comput Appl Biosci"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0167-7799(98)01217-7"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/44.4.731"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81069-7"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.2144\/98254dt06"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380050209"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt0597-422"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(79)90200-9"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.80.6.1579"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt0498-381"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9673(95)00828-4"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)10:1<1::AID-HUMU1>3.0.CO;2-P"},{"key":"e_1_2_1_26_1","first-page":"85","article-title":"Enzymatic mutation detection. Phosphate ions increase incision efficiency of endonuclease VII at a variety of damage sites in DNA","volume":"382","author":"Golz S","year":"1998","journal-title":"Mutat Res"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1050-3862(97)00009-0"},{"key":"e_1_2_1_28_1","first-page":"935","article-title":"PCR\u2010based screening for cystic fibrosis carrier mutations in an ethnically diverse pregnant population","volume":"60","author":"Grody WW","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/22.24.5456"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1296-441"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9673(97)01124-2"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt0996-1123"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.4.999"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3413476"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050373"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/21.16.3761"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.7.573"},{"key":"e_1_2_1_38_1","first-page":"442","article-title":"Using oligonucleotide probe arrays to access genetic diversity","volume":"19","author":"Lipshutz RJ","year":"1995","journal-title":"Biotechniques"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/s001090050160"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.1.107"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/26.6.1396"},{"key":"e_1_2_1_42_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/20.5.1005"},{"key":"e_1_2_1_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-4165(97)00090-1"},{"key":"e_1_2_1_44_1","doi-asserted-by":"publisher","DOI":"10.1021\/ja964427a"},{"key":"e_1_2_1_45_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/25.12.2245"},{"key":"e_1_2_1_46_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm0397-360"},{"key":"e_1_2_1_47_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/25.12.2516"},{"key":"e_1_2_1_48_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/17.7.2503"},{"key":"e_1_2_1_49_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.22.8923"},{"key":"e_1_2_1_50_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199612)16:13<1181::AID-PD93>3.0.CO;2-N"},{"key":"e_1_2_1_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81373-2"},{"key":"e_1_2_1_52_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.8.2766"},{"key":"e_1_2_1_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0027-5107(96)00245-X"},{"key":"e_1_2_1_54_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.7.6.606"},{"key":"e_1_2_1_55_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.11.5022"},{"key":"e_1_2_1_56_1","first-page":"456","article-title":"Molecular genetics and control of iron metabolism in hemochromatosis","volume":"83","author":"Pietrangelo A","year":"1998","journal-title":"Haematologica"},{"key":"e_1_2_1_57_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00591071"},{"key":"e_1_2_1_58_1","first-page":"782","article-title":"Fully\u2010automated, nonradioactive solid\u2010phase sequencing of genomic DNA obtained from PCR","volume":"17","author":"Rolfs A","year":"1994","journal-title":"Biotechniques"},{"key":"e_1_2_1_59_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/44.1.68"},{"key":"e_1_2_1_60_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/25.16.3377"},{"key":"e_1_2_1_61_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.10.4724"},{"key":"e_1_2_1_62_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1279"},{"key":"e_1_2_1_63_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/21.16.3623"},{"key":"e_1_2_1_64_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.16.6230"},{"key":"e_1_2_1_65_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/43.1.18"},{"key":"e_1_2_1_66_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-9120(94)00076-8"},{"key":"e_1_2_1_67_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005560408119"},{"key":"e_1_2_1_68_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/43.3.436"},{"key":"e_1_2_1_69_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1996)7:4<346::AID-HUMU9>3.0.CO;2-6"},{"key":"e_1_2_1_70_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.9.4374"},{"key":"e_1_2_1_71_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt0996-1084"},{"key":"e_1_2_1_72_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/13.7.2399"},{"key":"e_1_2_1_73_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.12.3671"},{"key":"e_1_2_1_74_1","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.1993.1207"},{"key":"e_1_2_1_75_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.4.1119"},{"key":"e_1_2_1_76_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.5.4.393"},{"key":"e_1_2_1_77_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.14.6379"},{"key":"e_1_2_1_78_1","first-page":"42","article-title":"Discrimination among the human beta A, beta S, and beta C\u2010globin genes using allele\u2010specific oligonucleotide hybridization probes","volume":"37","author":"Studencki AB","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_79_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(97)06552-2"},{"key":"e_1_2_1_80_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-973671"},{"key":"e_1_2_1_81_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/23.16.3126"},{"key":"e_1_2_1_82_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.20.9823"},{"key":"e_1_2_1_83_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt0198-49"},{"key":"e_1_2_1_84_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/44.2.264"},{"key":"e_1_2_1_85_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.7.10.996"},{"key":"e_1_2_1_86_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/26.10.2398"},{"key":"e_1_2_1_87_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0215(19980729)77:3<354::AID-IJC8>3.0.CO;2-N"},{"key":"e_1_2_1_88_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/6.11.3543"},{"key":"e_1_2_1_89_1","doi-asserted-by":"publisher","DOI":"10.1006\/abio.1995.1015"},{"key":"e_1_2_1_90_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90377-5"},{"key":"e_1_2_1_91_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0272-2712(18)30230-0"},{"key":"e_1_2_1_92_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac00082a007"},{"key":"e_1_2_1_93_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.7.550"},{"key":"e_1_2_1_94_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.10.4913"},{"key":"e_1_2_1_95_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.1.87"},{"key":"e_1_2_1_96_1","doi-asserted-by":"publisher","DOI":"10.1006\/mcpr.1995.0068"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1005508324048","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1005508324048","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T21:21:25Z","timestamp":1694812885000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1005508324048"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,6]]},"references-count":95,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1999,6]]}},"alternative-id":["10.1023\/A:1005508324048"],"URL":"https:\/\/doi.org\/10.1023\/a:1005508324048","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999,6]]}}}