{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T04:40:13Z","timestamp":1792644013872,"version":"4.5.0"},"reference-count":40,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2001,7,1]],"date-time":"2001-07-01T00:00:00Z","timestamp":993945600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":4401,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2001,7]]},"DOI":"10.1086\/321285","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T17:30:38Z","timestamp":1027704638000},"page":"75-87","source":"Crossref","is-referenced-by-count":127,"title":["Somatic Mosaicism in Hemophilia A: A Fairly Common Event"],"prefix":"10.1016","volume":"69","author":[{"given":"Marco","family":"Leuer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Oldenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Maurice","family":"Lavergne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Ludwig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Fregin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anton","family":"Eigel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolf","family":"Ljung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Goodeve","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Peake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Olek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/321285_bib2","doi-asserted-by":"crossref","first-page":"2206","DOI":"10.1182\/blood.V86.6.2206.bloodjournal8662206","article-title":"Factor VIII gene inversions in severe hemophilia A: results of an international consortium study","volume":"86","author":"Antonarakis","year":"1995","journal-title":"Blood"},{"key":"10.1086\/321285_bib3","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1136\/jmg.26.9.553","article-title":"Germinal mosaicism increases the recurrence risk for \u201cnew\u201d Duchenne muscular dystrophy mutations","volume":"26","author":"Bakker","year":"1989","journal-title":"J Med Genet"},{"key":"10.1086\/321285_bib4","first-page":"657","article-title":"Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies","volume":"58","author":"Becker","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1086\/321285_bib5","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1007\/BF00206748","article-title":"Somatic origin of inherited haemophilia A","volume":"85","author":"Br\u00f6cker-Vriends","year":"1990","journal-title":"Hum Genet"},{"key":"10.1086\/321285_bib6","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1006\/excr.1997.3508","article-title":"The primordial germ cells of mammals: some current perspectives","volume":"232","author":"Buehr","year":"1997","journal-title":"Exp Cell Res"},{"key":"10.1086\/321285_bib7","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1046\/j.1365-2141.1999.01743.x","article-title":"Grandpaternal mosaicism in a family with isolated haemophilia A","volume":"107","author":"Casey","year":"1999","journal-title":"Br J Haematol"},{"key":"10.1086\/321285_bib8","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/0168-9525(96)10021-4","article-title":"Xeroderma pigmentosum, Cockeyne syndrome and trichothi-dystrophy: do these genes explain the disease?","volume":"12","author":"Chu","year":"1996","journal-title":"Trends Genet"},{"key":"10.1086\/321285_bib9","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1038\/ng0595-20","article-title":"CpNpG methylation in mammalian cells","volume":"10","author":"Clark","year":"1995","journal-title":"Nat Genet"},{"key":"10.1086\/321285_bib10","first-page":"591","article-title":"Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COLIAI)","volume":"46","author":"Cohn","year":"1990","journal-title":"Am J Hum Genet"},{"key":"10.1086\/321285_bib11","first-page":"484","article-title":"Somatic mosaicism in a patient with neurofibromatosis type 1","volume":"58","author":"Colman","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1086\/321285_bib12","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1023\/A:1017002221520","article-title":"The developmental basis for germline mosaicism in mouse and Drosophila melanogaster","volume":"102\/103","author":"Drost","year":"1998","journal-title":"Genetica"},{"key":"10.1086\/321285_bib13","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1086\/302065","article-title":"Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells: implications for male-driven evolution","volume":"63","author":"El-Maarri","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1086\/321285_bib14","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1136\/jmg.34.2.137","article-title":"Germline and somatic mosaicism in a female carrier of Hunter disease","volume":"34","author":"Froissart","year":"1997","journal-title":"J Med Genet"},{"key":"10.1086\/321285_bib15","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/S0049-3848(97)00191-6","article-title":"Factor V Leiden: detection in whole blood by ASA PCR using an additional mismatch in antepenultimate position","volume":"88","author":"Hezard","year":"1997","journal-title":"Thromb Res"},{"key":"10.1086\/321285_bib16","first-page":"23","article-title":"A somatic mosaic detected at the DNA level","volume":"5","author":"Higuchi","year":"1988","journal-title":"Mol Biol Med"},{"key":"10.1086\/321285_bib17","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1093\/nar\/26.1.216","article-title":"The factor VIII structure and mutation resource site: HAMSReS version 4","volume":"26","author":"Kemball-Cook","year":"1998","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/321285_bib18","first-page":"629","article-title":"Germline origins in the human F9 gene: frequent G:C\u2014A:T mosaicism and increased mutations with advanced maternal age","volume":"105","author":"Ketterling","year":"1999","journal-title":"Hum Genet"},{"key":"10.1086\/321285_bib19","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1007\/s004390050256","article-title":"Absence of somatic mosaicism in 17 families with hemophilia B: an analysis with a sensitivity 10- to 1000-fold greater than that of sequencing gels","volume":"98","author":"Kn\u00f6ll","year":"1996","journal-title":"Hum Genet"},{"key":"10.1086\/321285_bib20","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1038\/ng1193-236","article-title":"Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A","volume":"5","author":"Lakich","year":"1993","journal-title":"Nat Genet"},{"key":"10.1086\/321285_bib21","first-page":"85","article-title":"A direct search for mutations in hemophilia A using restriction enzyme analysis ADN denaturing gel electrophoresis. A study of seven exons of the factor VIII gene of 170 cases","volume":"34","author":"Lavergne","year":"1992","journal-title":"Nouv Rev Fr Hematol"},{"key":"10.1086\/321285_bib22","first-page":"53","article-title":"Molecular analysis of hemophilia A mutations in the Finnish population","volume":"46","author":"Levinson","year":"1990","journal-title":"Am J Hum Genet"},{"key":"10.1086\/321285_bib23","doi-asserted-by":"crossref","first-page":"1458","DOI":"10.1182\/blood.V92.4.1458","article-title":"Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A","volume":"92","author":"Liu","year":"1998","journal-title":"Blood"},{"key":"10.1086\/321285_bib24","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1046\/j.1365-2141.1999.01631.x","article-title":"Origin of mutation in sporadic cases of haemophilia A","volume":"106","author":"Ljung","year":"1999","journal-title":"Br J Haematol"},{"key":"10.1086\/321285_bib25","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1002\/(SICI)1097-0223(199611)16:11<1032::AID-PD984>3.0.CO;2-9","article-title":"Genetic counselling and prenatal diagnosis of osteogenesis imperfecta caused by paternal mosaicism","volume":"16","author":"Lund","year":"1996","journal-title":"Prenatal Diagnosis"},{"key":"10.1086\/321285_bib26","doi-asserted-by":"crossref","first-page":"2905","DOI":"10.1182\/blood.V96.8.2905","article-title":"De novo factor VIII intron 22 inversion in a female carrier presents as a somatic mosaicism","volume":"96","author":"Oldenburg","year":"2000","journal-title":"Blood"},{"key":"10.1086\/321285_bib27","first-page":"1150","article-title":"Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk","volume":"51","author":"Passos-Bueno","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1086\/321285_bib28","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1093\/hmg\/3.7.1035","article-title":"Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells","volume":"3","author":"Rossiter","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1086\/321285_bib29","first-page":"377","article-title":"Involvement of DNA methylation in human carcinogenesis","volume":"379","author":"Schmutte","year":"1998","journal-title":"Biol Chem"},{"key":"10.1086\/321285_bib30","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1007\/s004390050636","article-title":"Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their analysis on a molecular model of factor VIII protein","volume":"101","author":"Schwaab","year":"1997","journal-title":"Hum Genet"},{"key":"10.1086\/321285_bib31","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1111\/j.1365-2141.1993.tb04670.x","article-title":"Mutations in haemophilia A","volume":"83","author":"Schwaab","year":"1993","journal-title":"Br J Haematol"},{"key":"10.1086\/321285_bib32","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1086\/301766","article-title":"Frequency of somatic and germline mosaicism in retinoblastoma: implications for genetic counseling","volume":"62","author":"Sippel","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1086\/321285_bib33","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/0092-8674(86)90856-1","article-title":"Retroviruses as probes for mammalian development: allocation of cells to the somatic and germ cell lineages","volume":"46","author":"Soriano","year":"1986","journal-title":"Cell"},{"key":"10.1086\/321285_bib34","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1542\/peds.39.2.186","article-title":"The perpetuation of hemophilia by mutation","volume":"39","author":"Strauss","year":"1967","journal-title":"Pediatrics"},{"key":"10.1086\/321285_bib35","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/(SICI)1098-1004(1998)12:5<301::AID-HUMU2>3.0.CO;2-G","article-title":"Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping","volume":"12","author":"Tavassoli","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1086\/321285_bib36","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1007\/BF00197255","article-title":"Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study","volume":"88","author":"van Essen","year":"1992","journal-title":"Hum Genet"},{"key":"10.1086\/321285_bib37","doi-asserted-by":"crossref","first-page":"1632","DOI":"10.1086\/302412","article-title":"High rate of mosaicism in tuberosis sclerosis complex","volume":"64","author":"Verhoef","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/321285_bib38","first-page":"312","article-title":"A probable sex difference in some mutation rates","volume":"29","author":"Vogel","year":"1977","journal-title":"Am J Hum Genet"},{"key":"10.1086\/321285_bib39","series-title":"Human genetics","first-page":"301","article-title":"Population genetics","author":"Vogel","year":"1986"},{"key":"10.1086\/321285_bib40","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1055\/s-0037-1615052","article-title":"Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis","volume":"79","author":"Williams","year":"1998","journal-title":"Thromb Haemost"},{"key":"10.1086\/321285_bib41","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/S0092-8674(00)80557-7","article-title":"Germ cells","volume":"96","author":"Wylie","year":"1999","journal-title":"Cell"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707614475?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707614475?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,4,22]],"date-time":"2023-04-22T22:10:58Z","timestamp":1682201458000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707614475"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,7]]},"references-count":40,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2001,7]]}},"alternative-id":["S0002929707614475"],"URL":"https:\/\/doi.org\/10.1086\/321285","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2001,7]]}}}