{"id":"https://openalex.org/W4240545233","doi":"https://doi.org/10.1002/(sici)1098-1004(1998)11:5<411::aid-humu11>3.3.co;2-u","title":"Analysis of CpG C\u2010to\u2010T mutations in neurofibromatosis type 1","display_name":"Analysis of CpG C\u2010to\u2010T mutations in neurofibromatosis type 1","publication_year":1998,"publication_date":"1998-01-01","ids":{"openalex":"https://openalex.org/W4240545233","doi":"https://doi.org/10.1002/(sici)1098-1004(1998)11:5<411::aid-humu11>3.3.co;2-u"},"language":"en","primary_location":{"id":"doi:10.1002/(sici)1098-1004(1998)11:5<411::aid-humu11>3.3.co;2-u","doi":"https://doi.org/10.1002/(sici)1098-1004(1998)11:5<411::aid-humu11>3.3.co;2-u","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1098-1004(1998)11:5<411::aid-humu11>3.3.co;2-u","pdf_url":null,"source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5053745838","display_name":"Sofia Krkljus","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I33213144","display_name":"University of Florida","ror":"https://ror.org/02y3ad647","country_code":"US","type":"education","lineage":["https://openalex.org/I33213144"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sofia Krkljus","raw_affiliation_strings":["Department of Pediatrics, Division of Genetics, University of Florida, Gainesville, Florida"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Division of Genetics, University of Florida, Gainesville, Florida","institution_ids":["https://openalex.org/I33213144"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109082568","display_name":"Corinne R. Abernathy","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I33213144","display_name":"University of Florida","ror":"https://ror.org/02y3ad647","country_code":"US","type":"education","lineage":["https://openalex.org/I33213144"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Corinne R. Abernathy","raw_affiliation_strings":["Department of Pediatrics, Division of Genetics, University of Florida, Gainesville, Florida"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Division of Genetics, University of Florida, Gainesville, Florida","institution_ids":["https://openalex.org/I33213144"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057870296","display_name":"Jennifer S. Johnson","orcid":"https://orcid.org/0000-0002-2061-4814","observed_orcids":["https://orcid.org/0000-0002-2061-4814"]},"institutions":[{"id":"https://openalex.org/I33213144","display_name":"University of Florida","ror":"https://ror.org/02y3ad647","country_code":"US","type":"education","lineage":["https://openalex.org/I33213144"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jennifer S. Johnson","raw_affiliation_strings":["Department of Pediatrics, Division of Genetics, University of Florida, Gainesville, Florida"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Division of Genetics, University of Florida, Gainesville, Florida","institution_ids":["https://openalex.org/I33213144"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101896596","display_name":"Charles A. Williams","orcid":"https://orcid.org/0000-0001-5401-1475","observed_orcids":["https://orcid.org/0000-0001-5401-1475"]},"institutions":[{"id":"https://openalex.org/I33213144","display_name":"University of Florida","ror":"https://ror.org/02y3ad647","country_code":"US","type":"education","lineage":["https://openalex.org/I33213144"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Charles A. Williams","raw_affiliation_strings":["Center for Mammalian Genetics, University of Florida College of Medicine, Gainesville, Florida","Department of Pediatrics, Division of Genetics, University of Florida, Gainesville, Florida"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Mammalian Genetics, University of Florida College of Medicine, Gainesville, Florida","institution_ids":["https://openalex.org/I33213144"]},{"raw_affiliation_string":"Department of Pediatrics, Division of Genetics, University of Florida, Gainesville, Florida","institution_ids":["https://openalex.org/I33213144"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038761925","display_name":"Daniel J. Driscoll","orcid":"https://orcid.org/0000-0002-9612-773X","observed_orcids":["https://orcid.org/0000-0002-9612-773X"]},"institutions":[{"id":"https://openalex.org/I33213144","display_name":"University of Florida","ror":"https://ror.org/02y3ad647","country_code":"US","type":"education","lineage":["https://openalex.org/I33213144"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Daniel J. Driscoll","raw_affiliation_strings":["Center for Mammalian Genetics, University of Florida College of Medicine, Gainesville, Florida","Department of Pediatrics, Division of Genetics, University of Florida, Gainesville, Florida"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Mammalian Genetics, University of Florida College of Medicine, Gainesville, Florida","institution_ids":["https://openalex.org/I33213144"]},{"raw_affiliation_string":"Department of Pediatrics, Division of Genetics, University of Florida, Gainesville, Florida","institution_ids":["https://openalex.org/I33213144"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091515649","display_name":"Roberto T. Zori","orcid":"https://orcid.org/0000-0002-0954-451X","observed_orcids":["https://orcid.org/0000-0002-0954-451X"]},"institutions":[{"id":"https://openalex.org/I33213144","display_name":"University of Florida","ror":"https://ror.org/02y3ad647","country_code":"US","type":"education","lineage":["https://openalex.org/I33213144"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Roberto Zori","raw_affiliation_strings":["Center for Mammalian Genetics, University of Florida College of Medicine, Gainesville, Florida","Department of Pediatrics, Division of Genetics, University of Florida, Gainesville, Florida"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Mammalian Genetics, University of Florida College of Medicine, Gainesville, Florida","institution_ids":["https://openalex.org/I33213144"]},{"raw_affiliation_string":"Department of Pediatrics, Division of Genetics, University of Florida, Gainesville, Florida","institution_ids":["https://openalex.org/I33213144"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109139707","display_name":"Heather J. Stalker","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I33213144","display_name":"University of Florida","ror":"https://ror.org/02y3ad647","country_code":"US","type":"education","lineage":["https://openalex.org/I33213144"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Heather J. Stalker","raw_affiliation_strings":["Department of Pediatrics, Division of Genetics, University of Florida, Gainesville, Florida"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Division of Genetics, University of Florida, Gainesville, Florida","institution_ids":["https://openalex.org/I33213144"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067842074","display_name":"Sonja A. Rasmussen","orcid":"https://orcid.org/0000-0002-0574-4928","observed_orcids":["https://orcid.org/0000-0002-0574-4928"]},"institutions":[{"id":"https://openalex.org/I33213144","display_name":"University of Florida","ror":"https://ror.org/02y3ad647","country_code":"US","type":"education","lineage":["https://openalex.org/I33213144"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sonja A. Rasmussen","raw_affiliation_strings":["Department of Pediatrics, Division of Genetics, University of Florida, Gainesville, Florida"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Division of Genetics, University of Florida, Gainesville, Florida","institution_ids":["https://openalex.org/I33213144"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068242165","display_name":"Francis S. Collins","orcid":"https://orcid.org/0000-0002-1023-7410","observed_orcids":["https://orcid.org/0000-0002-1023-7410"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Francis S. Collins","raw_affiliation_strings":["National Center for Human Genome Research, N.I.H., Bethesda, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Center for Human Genome Research, N.I.H., Bethesda, Maryland","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078737947","display_name":"Boris G. Kousseff","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2613432","display_name":"University of South Florida","ror":"https://ror.org/032db5x82","country_code":"US","type":"education","lineage":["https://openalex.org/I2613432"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Boris G. Kousseff","raw_affiliation_strings":["Department of Pediatrics, Division of Genetics, University of South Florida, Tampa, Florida"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Division of Genetics, University of South Florida, Tampa, Florida","institution_ids":["https://openalex.org/I2613432"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017533773","display_name":"Lisa L. Baumbach","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145608581","display_name":"University of Miami","ror":"https://ror.org/02dgjyy92","country_code":"US","type":"education","lineage":["https://openalex.org/I145608581"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lisa Baumbach","raw_affiliation_strings":["Department of Pediatrics, Division of Genetics, University of Miami, Florida"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Division of Genetics, University of Miami, Florida","institution_ids":["https://openalex.org/I145608581"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5078828859","display_name":"Margaret R. Wallace","orcid":"https://orcid.org/0000-0002-5202-8895","observed_orcids":["https://orcid.org/0000-0002-5202-8895"]},"institutions":[{"id":"https://openalex.org/I2800717037","display_name":"University of Florida Health","ror":"https://ror.org/04tk2gy88","country_code":"US","type":"education","lineage":["https://openalex.org/I2800717037","https://openalex.org/I33213144"]},{"id":"https://openalex.org/I33213144","display_name":"University of Florida","ror":"https://ror.org/02y3ad647","country_code":"US","type":"education","lineage":["https://openalex.org/I33213144"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Margaret R. Wallace","raw_affiliation_strings":["Center for Mammalian Genetics, University of Florida College of Medicine, Gainesville, Florida","Department of Pediatrics, Division of Genetics, University of Florida, Gainesville, Florida","Departments of Biochemistry and Molecular Biology, and Pathology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Mammalian Genetics, University of Florida College of Medicine, Gainesville, Florida","institution_ids":["https://openalex.org/I33213144"]},{"raw_affiliation_string":"Department of Pediatrics, Division of Genetics, University of Florida, Gainesville, Florida","institution_ids":["https://openalex.org/I33213144"]},{"raw_affiliation_string":"Departments of Biochemistry and Molecular Biology, and Pathology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida","institution_ids":["https://openalex.org/I2800717037","https://openalex.org/I33213144"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5078828859"],"corresponding_institution_ids":["https://openalex.org/I2800717037","https://openalex.org/I33213144"],"apc_list":{"value":2740,"currency":"USD","value_usd":2740},"apc_paid":null,"fwci":0.2696,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.6703851,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"11","issue":"5","first_page":"411","last_page":"411"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11173","display_name":"Neurofibromatosis and Schwannoma Cases","score":0.9868000149726868,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11173","display_name":"Neurofibromatosis and Schwannoma Cases","score":0.9868000149726868,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0027000000700354576,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.0015999999595806003,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/neurofibromatosis-type-1","display_name":"neurofibromatosis type 1","score":1.0},{"id":"https://openalex.org/keywords/nf1-gene","display_name":"NF1 gene","score":0.9649999737739563},{"id":"https://openalex.org/keywords/mutation-frequency","display_name":"mutation frequency","score":0.5389999747276306},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.703000009059906},{"id":"https://openalex.org/keywords/recurrent-mutations","display_name":"recurrent mutations","score":0.593999981880188},{"id":"https://openalex.org/keywords/mutation-mechanism","display_name":"mutation mechanism","score":0.32499998807907104},{"id":"https://openalex.org/keywords/benign-variants","display_name":"benign variants","score":0.36899998784065247}],"concepts":[{"id":"https://openalex.org/C140173407","wikidata":"https://www.wikidata.org/wiki/Q1138358","display_name":"CpG site","level":5,"score":0.7788946628570557},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.7740455865859985},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7479588985443115},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7326693534851074},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.6968616247177124},{"id":"https://openalex.org/C194232998","wikidata":"https://www.wikidata.org/wiki/Q1606712","display_name":"Transition (genetics)","level":3,"score":0.6489409804344177},{"id":"https://openalex.org/C2778984943","wikidata":"https://www.wikidata.org/wiki/Q847605","display_name":"Neurofibromatosis","level":2,"score":0.6481878161430359},{"id":"https://openalex.org/C64872895","wikidata":"https://www.wikidata.org/wiki/Q1361360","display_name":"Transversion","level":4,"score":0.647620439529419},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5705112814903259},{"id":"https://openalex.org/C98638677","wikidata":"https://www.wikidata.org/wiki/Q2067051","display_name":"Mutation rate","level":3,"score":0.5303478837013245},{"id":"https://openalex.org/C62923972","wikidata":"https://www.wikidata.org/wiki/Q600499","display_name":"Nonsense","level":3,"score":0.496359646320343},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4252842366695404},{"id":"https://openalex.org/C163565370","wikidata":"https://www.wikidata.org/wiki/Q4308623","display_name":"Mutation testing","level":4,"score":0.41244882345199585},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.40548115968704224},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.14328300952911377},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1002/(sici)1098-1004(1998)11:5<411::aid-humu11>3.3.co;2-u","doi":"https://doi.org/10.1002/(sici)1098-1004(1998)11:5<411::aid-humu11>3.3.co;2-u","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1098-1004(1998)11:5<411::aid-humu11>3.3.co;2-u","pdf_url":null,"source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"score":0.4699999988079071,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1974839656","https://openalex.org/W4235782100","https://openalex.org/W2108351342","https://openalex.org/W2111680284","https://openalex.org/W2072163115","https://openalex.org/W7101123974","https://openalex.org/W1998980669","https://openalex.org/W2057769156","https://openalex.org/W2089591280","https://openalex.org/W2153501431"],"abstract_inverted_index":{"Neurofibromatosis":[0],"type":[1],"1":[2],"(NF1)":[3],"is":[4,27,151],"a":[5,28,43,58,77,90,97,137,143,170],"dominant":[6],"disorder":[7],"caused":[8],"by":[9,111],"mutations":[10,19,103,178],"in":[11,32,39,51,65,104,142,166],"the":[12,115,132,154],"NF1":[13,17,159,177],"gene;":[14],"approximately":[15],"100":[16],"gene":[18],"have":[20],"been":[21],"published.":[22],"The":[23,69],"CpG":[24,59,73,102,155,183],"C-to-T":[25,74,120,138],"transition":[26,61,139],"frequent":[29,84],"mutation":[30,79,95,156,172],"mechanism":[31],"genetic":[33],"disorders.":[34],"To":[35],"estimate":[36],"its":[37],"frequency":[38],"NF1,":[40],"we":[41],"employed":[42],"PCR-restriction":[44],"digestion":[45],"method":[46],"to":[47,163],"examine":[48],"17":[49],"CpGs":[50,134],"65":[52],"patients,":[53],"and":[54,93,122,174],"also":[55],"screened":[56],"for":[57],"nonsense":[60,78,144],"(R1947X)":[62],"that":[63,80,153,164,175],"occurs":[64],"1-2%":[66],"of":[67,106,131],"patients.":[68],"analysis":[70,105],"revealed":[71],"disease-related":[72],"transitions":[75,121],"(including":[76],"may":[81,179],"be":[82,161],"as":[83,85,87,89],"R1947X)":[86],"well":[88],"benign":[91],"variant":[92],"another":[94],"at":[96,135,158,182],"CpG.":[98],"Four":[99],"patients":[100],"showed":[101],"18":[107,127],"sites":[108,128],"(17":[109],"surveyed":[110],"restriction":[112],"digest,":[113],"plus":[114],"R1947X":[116],"assay),":[117],"including":[118],"three":[119],"one":[123],"C-to-G":[124],"transversion.":[125],"These":[126],"represent":[129],"one-fifth":[130],"91":[133],"which":[136],"would":[140],"result":[141],"or":[145],"nonconservative":[146],"missense":[147],"mutation.":[148],"Thus,":[149],"it":[150],"feasible":[152],"rate":[157],"might":[160],"similar":[162],"seen":[165],"other":[167],"disorders":[168],"with":[169],"high":[171],"rate,":[173],"recurrent":[176],"frequently":[180],"reside":[181],"sites.":[184],"Hum":[185],"Mutat":[186],"11:411,":[187],"1998.":[188],"\u00a9":[189],"1998":[190],"Wiley-Liss,":[191],"Inc.":[192]},"counts_by_year":[],"updated_date":"2026-10-08T09:06:37.294493","created_date":"2022-05-12T00:00:00"}