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uncorrected proof V gene : incidence in deep venous thrombosis and hemophilia A patients","volume":"114","author":"Berber","year":"2003","journal-title":"Haemophilia Haematol"},{"key":"ref891","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1111\/j.1365-2516.2005.01121.x","article-title":"Identification of factor VIII gene mutations in patients with haemophilia A : mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modeling of novel missense substitutions","volume":"90","author":"Jayandharan","year":"2005","journal-title":"Haemophilia"},{"key":"ref961","first-page":"429","article-title":"Haemophilia : strategies for carrier detection and prenatal diagnosis","volume":"97","author":"Peake","year":"1993","journal-title":"Bull World Health Organ"},{"key":"ref251","first-page":"312","article-title":"Molecular cloning of a cDNA encoding human antihaemophilic factor","volume":"25","author":"Toole","year":"1984","journal-title":"Nature"},{"key":"ref301","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1046\/j.1365-2141.2001.02362.x","article-title":"Perinatal management of neonates with haemophilia","volume":"30","author":"Kulkarni","year":"2001","journal-title":"Br Haematol"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/S1440-2440(00)80005-5","article-title":"Changes in blood coagulation and fibrinolysis associat - ed with maximal exercise and physical conditioning in women taking low dose oral contraceptives","volume":"15","author":"Hilberg","year":"2000","journal-title":"J Sci Med Sport"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1111\/j.1365-2516.2004.01005.x","article-title":"Molecoular basis of haemophilia A","volume":"19","author":"Oldenburg","year":"2004","journal-title":"Haemophilia"},{"key":"ref1241","doi-asserted-by":"crossref","first-page":"1682","DOI":"10.1111\/j.1538-7836.2005.01460.x","article-title":"Gene transfer for hemophilia : can therapeutic efficacy in large animals be safely translated to patients","volume":"125","author":"High","year":"2005","journal-title":"J Thromb Haemost"},{"key":"ref391","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1093\/oxfordjournals.humrep.a137192","article-title":"Analysis of the first polar body : preconcep - tion genetic diagnosis","volume":"40","author":"Verlinsky","year":"1990","journal-title":"Hum Reprod"},{"key":"ref761","first-page":"243","article-title":"Long distance PCR in detection of inversion mutations of gene in hemo - philia A patients","volume":"77","author":"Polakova","year":"2003","journal-title":"Gen Physiol Biophys"},{"key":"ref931","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1111\/j.1365-2141.2004.04959.x","article-title":"- mer Mutation of the sur - face - exposed amino acid Trp to Ala in the FVIII domain results in defective secretion of the otherwise functional protein","volume":"94","author":"Schatz","year":"2004","journal-title":"Br Haematol"},{"key":"ref201","first-page":"251","article-title":"Catabolism of the coagulation factor VIII Can we pro - long lifetime of FVIII in circulation ? Trends Cardiovasc","volume":"20","author":"Ananyeva","year":"2001","journal-title":"Med"},{"key":"ref451","first-page":"373","article-title":"Live birth following the first mutation specific pre - implantation genetic diagnosis for haemophilia A Thromb","volume":"46","author":"Michaelides","year":"2006","journal-title":"Haemost"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1038\/312326a0","article-title":"Characterization of the human factor VIII gene","volume":"23","author":"Gitschier","year":"1984","journal-title":"Nature"},{"key":"ref551","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1002\/pd.520","article-title":"Detection of gamma - globin mRNA in fetal nucleated red blood cells by PNA fluores - cence in situ hybridization","volume":"56","author":"Larsen","year":"2003","journal-title":"Prenat Diagn"},{"key":"ref481","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.placenta.2004.01.005","article-title":"Circulating fetal DNA : its origin and diag - nostic potential a review","volume":"49","author":"Bianchi","year":"2004","journal-title":"Placenta"},{"key":"ref401","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1023\/A:1022592427128","article-title":"Preimplantation diagnosis of common aneuploidies by the first - and second - polar body FISH analysis","volume":"41","author":"Verlinsky","year":"1998","journal-title":"J Assist Reprod Genet"},{"key":"ref1231","first-page":"671","article-title":"Maggs PH Optimal haemophilia care versus the reality","volume":"124","author":"Bolton","year":"2005","journal-title":"Br Haematol"},{"key":"ref1201","first-page":"1061","article-title":"- polets Factor VIII efficient and specific non - covalent binding to PEGylated liposomes enables prolongation of its circulation time and haemostatic efficacy","volume":"121","author":"Baru","year":"2005","journal-title":"Thromb Haemost"},{"key":"ref621","article-title":"Molecular biological aspects of inhibitor development","volume":"63","author":"Tuddenham","year":"1999","journal-title":"Vox Sang"},{"key":"ref751","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.2144\/98256rr01","article-title":"Subcycling - PCR for multiplex long - distance amplification of regions with high and low GC content : application to the inversion hotspot in the factor VIII gene","volume":"76","author":"Liu","year":"1998","journal-title":"Biotechniques"},{"key":"ref601","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.1111\/j.1538-7836.2005.01375.x","article-title":"Rob - erts HR Cellular immune responses in hemophilia : why do inhibitors develop in some , but not all hemophiliacs","volume":"61","author":"White","year":"2005","journal-title":"J Thromb Haemost"},{"key":"ref781","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1182\/blood.V99.1.168","article-title":"Recur - rent inversion breaking intron of the factor VIII gene is a frequent cause of severe hemophilia A","volume":"79","author":"Bagnall","year":"2002","journal-title":"Blood"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.1021\/bi0520380","article-title":"Identification of coag - ulation factor VIII A domain residues forming the bind - ing epitome for low - density lipoprotein receptor - related protein","volume":"21","author":"Sarafanov","year":"2006","journal-title":"Biochemistry"},{"key":"ref531","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1056\/NEJM200205093461918","article-title":"New strategy for pre - natal diagnosis of linked disorders","volume":"54","author":"Costa","year":"2002","journal-title":"Engl J Med"},{"key":"ref331","first-page":"156","article-title":"de Tezanos Update of episodes of central nervous system bleed - ing in hemophiliacs","volume":"33","author":"Pinto","year":"1992","journal-title":"Haemostasis"},{"key":"ref511","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1086\/301800","article-title":"Quantitative analysis of fetal DNA in maternal plasma and serum : implications for noninvasive prenatal diagnosis","volume":"52","author":"Lo","year":"1998","journal-title":"Am J Hum Genet"},{"key":"ref911","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/S0165-022X(00)00150-0","article-title":"Holinski - Evaluation of DHPLC in the anal - ysis of hemophilia A","volume":"92","author":"Oldenburg","year":"2001","journal-title":"J Biochem Biophys Methods"},{"key":"ref431","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1017\/S0967199400003920","article-title":"Laser blastocyst biopsy for preim - plantation diagnosis in the human","volume":"44","author":"Veiga","year":"1997","journal-title":"Zygote"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1182\/blood.V7.8.794.794","article-title":"Hemorrhagic disease in an infant due to deficiency of a previously undescribed clotting factor","volume":"5","author":"Schulman","year":"1952","journal-title":"Blood"},{"key":"ref741","first-page":"460","article-title":"- Factor VIII gene inversions molecular insights Article in press - uncorrected proof causing severe hemophilia A originate almost exclusive - ly in male germ cells","volume":"75","author":"Rossiter","year":"1994","journal-title":"Haemophilia Hum Mol Genet"},{"key":"ref1251","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1038\/sj.ejhg.5201535","article-title":"Large animal models and gene therapy","volume":"126","author":"Casal","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"ref681","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1532\/IJH97.03138","article-title":"- ma Inversions of the factor VIII gene in Japa - nese patients with severe hemophilia A","volume":"69","author":"Fukuda","year":"2004","journal-title":"Int J Hematol"},{"key":"ref821","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1007\/s004390050636","article-title":"Pem - berton 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":"83","author":"Schwaab","year":"1997","journal-title":"Hum Genet"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"4373","DOI":"10.1182\/blood.V96.13.4373","article-title":"Unbalanced chromosome inactiva - tion with a novel FVIII gene mutation resulting in severe haemophilia A in a female","volume":"8","author":"Favier","year":"2000","journal-title":"Blood"},{"key":"ref901","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1002\/(SICI)1098-1004(1998)12:6<393::AID-HUMU5>3.0.CO;2-A","article-title":"Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene","volume":"91","author":"Laprise","year":"1998","journal-title":"Hum Mutat"},{"key":"ref1101","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/S0021-9150(00)00679-1","article-title":"Mul - ler Identification of six methylenetetrahydro - folate reductase ( MTHFR ) genotypes resulting from common polymorphisms : impact on plasma homocys - teine levels and development of coronary artery dis - ease","volume":"111","author":"Meisel","year":"2001","journal-title":"Atherosclerosis"},{"key":"ref371","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1002\/bdra.10078","article-title":"Chorionic villus sam - pling : a distinctive teratogenic effect on fingers ? Birth","volume":"38","author":"Golden","year":"2003","journal-title":"Defects Res A Clin Mol Teratol"},{"key":"ref871","first-page":"13","article-title":"Thirty - four mutations detected in factor VIII gene by multiplex CSGE : modeling of novel amino acid substitutions","volume":"88","author":"Habart","year":"2003","journal-title":"J Thromb Haemost"},{"key":"ref611","first-page":"1402","article-title":"- gesser Haemophilia mutation type determines risk of inhibitor formation Thromb","volume":"62","author":"Schwaab","year":"1995","journal-title":"Haemost"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1136\/jcp.29.6.469","article-title":"The history of haemophilia","volume":"3","author":"Ingram","year":"1976","journal-title":"J Clin Pathol"},{"key":"ref561","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1002\/humu.10119","article-title":"High throughput mutation screening of the factor VIII gene ( in hemophilia A : novel mutations and genotype - phenotype correlation","volume":"57","author":"Citron","year":"2002","journal-title":"Hum Mutat"},{"key":"ref771","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1373\/clinchem.2004.046490","article-title":"De Brasi CD Genotyp - ing the haemophilia inversion hotspot by use of inverse PCR","volume":"78","author":"Rossetti","year":"2005","journal-title":"Clin Chem"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1046\/j.1365-2141.2002.03793.x","article-title":"- Factor VIII novel insights into form and func - tion","volume":"18","author":"Saenko","year":"2002","journal-title":"Br Haematol"},{"key":"ref851","first-page":"723","article-title":"Precise carrier and prenatal diag - nosis in families with haemophilia A : use of conforma - tion sensitive gel electrophoresis for rapid mutation screening and polymorphism analysis","volume":"86","author":"Williams","year":"1998","journal-title":"ThrombHaemost"},{"key":"ref491","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1086\/514885","article-title":"- ger PCR quantitation of fetal cells in maternal blood in normal and aneuploid pregnancies","volume":"50","author":"Bianchi","year":"1997","journal-title":"Am J Hum Genet"},{"key":"ref421","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1093\/oxfordjournals.humrep.a137191","article-title":"Trophectoderm biopsy in human blastocysts","volume":"43","author":"Dokras","year":"1990","journal-title":"Hum Reprod"},{"key":"ref721","first-page":"75","article-title":"Inversion mutation as a major cause of severe hemophilia A in Italian patients","volume":"73","author":"Mori","year":"1997","journal-title":"Haematologica"},{"key":"ref541","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1001\/jama.293.7.843","article-title":"Detection of paternally inherited fetal point mutations for beta - thalassemia using size - fractionated cell - free DNA in maternal plasma erratum","volume":"55","author":"Li","year":"2005","journal-title":"J Am Med Assoc Am Med Assoc"},{"key":"ref1221","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/S0887-7963(96)80089-7","article-title":"Blood protein from transgenic animal bioreactors","volume":"123","author":"Lubon","year":"1996","journal-title":"Transfus Med Rev"},{"key":"ref811","first-page":"41","article-title":"The iden - tification and classification of novel mutations in the factor VIII gene","volume":"82","author":"Cutler","year":"2002","journal-title":"Hum Mutat"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1111\/j.1365-2516.2005.01111.x","article-title":"The molecular anal - ysis of haemophilia A : a guideline from the UK haemo - philia centre doctors organization haemophilia genetics laboratory network","volume":"12","author":"Keeney","year":"2005","journal-title":"Haemophilia"},{"key":"ref1151","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1182\/asheducation-2005.1.429","article-title":"New perspectives in hemophilia treatment","volume":"116","author":"Kessler","year":"2005","journal-title":"Hematology"},{"key":"ref341","article-title":"How do carriers of hae - mophilia and their spouses experience prenatal diag - nosis by chorionic villus sampling","volume":"34","author":"Tedgard","year":"1999","journal-title":"Clin Genet"},{"key":"ref1301","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1126\/science.1088547","article-title":"- Von Kalle - mack LMO - asso - ciated clonal T cell proliferation in two patients after gene therapy for SCID -","volume":"131","author":"Hacein","year":"2003","journal-title":"Science"},{"key":"ref1081","doi-asserted-by":"crossref","first-page":"295","DOI":"10.5858\/2002-126-0295-GPAWVA","article-title":"Genetic polymorphisms associated with venous and arterial thrombosis","volume":"109","author":"Kottke","year":"2002","journal-title":"Arch Pathol Lab Med"},{"key":"ref271","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1093\/hmg\/4.7.1217","article-title":"Investigation of the factor VIII intron repeated region and the associated inversion junctions","volume":"27","author":"Naylor","year":"1995","journal-title":"int Hum Mol Genet"},{"key":"ref351","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1111\/j.1365-2516.2006.01298.x","article-title":"Sar - no Identification of fetal gender in maternal blood is a helpful tool in the prenatal diagnosis of haemophilia","volume":"35","author":"Santacroce","year":"2006","journal-title":"Haemophilia"},{"key":"ref641","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.cell.2005.05.013","article-title":"How the T cell repertoire becomes peptide and MHC specific","volume":"65","author":"Huseby","year":"2005","journal-title":"Cell"},{"key":"ref1061","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1182\/blood.V95.5.1517.005k48_1517_1532","article-title":"Role of hemostatic gene polymor - phisms in venous and arterial thrombotic disease","volume":"107","author":"Lane","year":"2000","journal-title":"Blood"},{"key":"ref881","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1111\/j.1365-2516.2005.01069.x","article-title":"Mutation analysis in patients with haemophilia A : report of novel mutations and correlations between genotype and clin - ical phenotype","volume":"89","author":"Hill","year":"2005","journal-title":"Haemophilia"},{"key":"ref131","first-page":"274","article-title":"Molecular diagnosis in haemophilia A","volume":"13","author":"Pandey","year":"2001","journal-title":"J Postgrad Med"},{"key":"ref861","first-page":"577","article-title":"Mutation profiling in haemophilia A Thromb","volume":"87","author":"Oldenburg","year":"2001","journal-title":"Haemost"},{"key":"ref941","doi-asserted-by":"crossref","first-page":"3412","DOI":"10.1182\/blood-2003-10-3591","article-title":"Cunning - ham Bioengineering of coagu - lation factor VIII for improved secretion","volume":"95","author":"Miao","year":"2004","journal-title":"Blood"},{"key":"ref1291","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.ymgme.2003.08.016","article-title":"Fatal systemic inflammatory response syn - drome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer","volume":"130","author":"Raper","year":"2003","journal-title":"Mol Genet Metab"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1097\/00000441-193510000-00009","article-title":"A study of the coagulation defect in hemophilia and in jaundice","volume":"9","author":"Quick","year":"1935","journal-title":"Am J Med Sci"},{"key":"ref791","first-page":"118","article-title":"Inversion of intron of the factor VIII gene for direct molecular diagnosis hemo - philia A","volume":"80","author":"Tizzano","year":"2003","journal-title":"Haematologica"},{"key":"ref651","article-title":"Why do inhibitors develop ? Principles of and factors influencing the risk for inhibitor develop - ment in haemophilia","volume":"66","author":"Astermark","year":"2006","journal-title":"Haemophilia"},{"key":"ref711","first-page":"169","article-title":"Intron inversions in the Turkish haemophilia A patients : prevalence and haplotype analysis","volume":"72","author":"El","year":"1999","journal-title":"Haemophilia"},{"key":"ref1271","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1182\/blood.V95.3.820.003k32_820_828","article-title":"Sustained high - level expression of full - length human factor VIII and restoration of clotting activity in hemophilic mice using a minimal adenovirus vector","volume":"128","author":"Balague","year":"2000","journal-title":"Blood"},{"key":"ref471","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1038\/sj.ejhg.5201598","article-title":"The interface between assisted repro - ductive technologies and genetics : technical , social , eth - ical and legal issues","volume":"48","author":"Soini","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"ref411","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1093\/oxfordjournals.humrep.a137173","article-title":"AH Human preimplantation development in vitro is not adversely affected by biopsy at the - cell stage","volume":"42","author":"Hardy","year":"1990","journal-title":"Hum Reprod"},{"key":"ref1121","first-page":"677","article-title":"Does the MTHFR allele alter the clinical phenotype in severe haemophilia A","volume":"113","author":"Ahmed","year":"2003","journal-title":"Thromb Res"},{"key":"ref311","first-page":"609","article-title":"Normal vaginal delivery is recommended for haemophilia carrier gravidae","volume":"31","author":"Ljung","year":"1994","journal-title":"Acta Paediatr"},{"key":"ref921","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1055\/s-0037-1615637","article-title":"Rapid haemophilia A molecular diagnosis by a simple DNA sequencing procedure : identification of novel muta - tions","volume":"93","author":"Vidal","year":"2001","journal-title":"Thromb Haemost"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"1378","DOI":"10.1136\/bmj.2.4799.1378","article-title":"Christmas disease : a condition pre - viously mistaken for haemophilia","volume":"6","author":"Biggs","year":"1952","journal-title":"Br Med J"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1002\/(SICI)1098-2825(2000)14:3<101::AID-JCLA4>3.0.CO;2-A","article-title":"Clinical utilization of the international normalized ratio","volume":"10","author":"Riley","year":"2000","journal-title":"J Clin Lab Anal"},{"key":"ref321","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1007\/PL00014346","article-title":"Mauz Prevalence and outcome of intracranial haemorrhage in haemophiliacs a survey of the paediatric group of the German Society of Throm - bosis and Haemostasis","volume":"32","author":"Klinge","year":"1999","journal-title":"Eur J Pediatr"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/312337a0","article-title":"Structure of human factor VIII","volume":"17","author":"Vehar","year":"1984","journal-title":"Nature"},{"key":"ref731","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":"74","author":"Lakich","year":"1993","journal-title":"Nat Genet"},{"key":"ref161","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1055\/s-0037-1616143","article-title":"Tissue distribution of factor VIII gene expression in vivo a closer look Thromb","volume":"16","author":"Hollestelle","year":"2001","journal-title":"Haemost"},{"key":"ref361","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1046\/j.1365-2516.1999.00295.x","article-title":"Prenatal diagnosis of haemophilia Haemo - philia molecular insights Article in press - uncorrected proof Outcome of consecutive transabdominal cho - rionic villus samplings in patients","volume":"36","author":"Ljung","year":"1999","journal-title":"Haemophilia Chin Med J"},{"key":"ref501","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1073\/pnas.93.2.705","article-title":"MA Male fetal progenitor cells persist in maternal blood for as long as years postpartum","volume":"51","author":"Bianchi","year":"1996","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref1031","first-page":"1255","article-title":"Low prevalence of the factor V Leiden mutation among severe hemo - philiacs with a milder bleeding diathesis Thromb","volume":"104","author":"Arbini","year":"1995","journal-title":"Haemost"},{"key":"ref631","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1053\/j.seminhematol.2003.11.016","article-title":"Environmental and genet - ic factors influencing inhibitor development","volume":"64","author":"Oldenburg","year":"2004","journal-title":"Semin Hematol"},{"key":"ref441","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1093\/molehr\/5.4.382","article-title":"- dervorst Clinical experience of sex determination by fluorescent in - situ hybridization for preimplantation genetic diagnosis","volume":"45","author":"Staessen","year":"1999","journal-title":"Mol Hum Reprod"},{"key":"ref11","first-page":"502","article-title":"Acknowledgements Grants from Ministero della Salute D vo annualita and Universita del Molise are gratefully acknowledged We thank Jean Ann Gilder for text editing References Hemophilia in the Talmud and Rabbinic writ - ings","volume":"133","author":"Rosner","year":"2003","journal-title":"Ann Int Med"},{"key":"ref221","doi-asserted-by":"crossref","first-page":"3459","DOI":"10.1182\/blood.V96.10.3459","article-title":"Den ter Maat - nekoek Activation of factor IX zymogen results in exposure of a binding site for low - density lipoprotein receptor - related protein","volume":"22","author":"Neels","year":"2000","journal-title":"Blood"},{"key":"ref671","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1373\/clinchem.2004.031609","article-title":"Quantitative real - time PCR assay for rapid identification of deletion carriers in hemophilia","volume":"68","author":"Costa","year":"2004","journal-title":"Clin Chem"},{"key":"ref801","first-page":"238","article-title":"Detecting single - base mutations Trends Bio -","volume":"81","author":"Prosser","year":"1993","journal-title":"technol"},{"key":"ref1091","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1515\/CCLM.1998.156","article-title":"Polymorphisms of coagulation factor genes a review","volume":"110","author":"Ferrer","year":"1998","journal-title":"Clin Chem Lab Med"},{"key":"ref831","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1046\/j.1365-2516.2002.00661.x","article-title":"Kos - tova Three novel mutations causing hae - mophilia A","volume":"84","author":"Sukarova","year":"2002","journal-title":"Haemophilia"},{"key":"ref1111","first-page":"218","article-title":"- Symptomatic onset of severe hemophilia A in childhood is dependent on the presence of prothrombotic risk factors Thromb","volume":"112","author":"Escuriola Ettinghausen","year":"2001","journal-title":"Haemost"},{"key":"ref1011","first-page":"506","article-title":"Moderation of hemo - philia A phenotype by the factor V mutation","volume":"102","author":"Nichols","year":"1996","journal-title":"Blood"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1046\/j.1365-2516.1999.00352.x","article-title":"Severe haemophilia A in a female : com - pound heterozygote with nonrandom inactivation","volume":"7","author":"Seeler","year":"1999","journal-title":"Haemophilia"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"692","DOI":"10.3181\/00379727-79-19488","article-title":"Plasma thromboplastin component ( PTC ) deficiency : a new disease resembling haemophilia","volume":"4","author":"Aggeler","year":"1952","journal-title":"Proc Soc Exp Biol Med"},{"key":"ref691","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1046\/j.1365-2516.2001.00508.x","article-title":"Factor VIII gene inversions and polymorphisms in Brazilian patients with haemophilia A : carrier detection and prenatal diagnosis","volume":"70","author":"Soares","year":"2001","journal-title":"Haemophilia"},{"key":"ref141","first-page":"135","article-title":"Sex chromatin and gene action in mammalian - chromosome","volume":"14","author":"Lyon","year":"1962","journal-title":"Am J Hum Genet"},{"key":"ref1071","first-page":"300","article-title":"Thrombophilia , poly - morphisms , and vascular disease","volume":"108","author":"Sykes","year":"2000","journal-title":"J Clin Pathol"},{"key":"ref521","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1086\/302205","article-title":"NM Rapid clearance of fetal DNA from maternal plasma","volume":"53","author":"Lo","year":"1999","journal-title":"Am J Hum Genet"},{"key":"ref1021","first-page":"387","article-title":"Aka - butu Effect of the factor V Leiden mutation on the clinical expression of severe hemophilia A Thromb","volume":"103","author":"Lee","year":"2000","journal-title":"Haemost"},{"key":"ref111","first-page":"637","article-title":"Effect of anti - hemophilic factor on one - stage clotting tests A pre - sumptive test for antihemophilic factor assay procedure","volume":"11","author":"Langdell","year":"1953","journal-title":"J Lab Clin Med"},{"key":"ref841","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1046\/j.1365-2516.2003.00729.x","article-title":"Gen - otype and phenotype of haemophilia A in Thai patients","volume":"85","author":"Yenchitsomanus","year":"2003","journal-title":"Haemophilia"},{"key":"ref1311","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1089\/hum.2006.17.362","article-title":"OL In vivo liver electroporation : optimization and demonstration of therapeutic efficacy","volume":"132","author":"Jaichandran","year":"2006","journal-title":"Hum Gene Ther"},{"key":"ref281","first-page":"312","article-title":"A probable sex difference in some mutation rates","volume":"28","author":"Vogel","year":"1977","journal-title":"Am J Hum Genet"},{"key":"ref1051","first-page":"59","article-title":"De Thrombophilia as a multigenic disease","volume":"106","author":"Zoller","year":"1999","journal-title":"Haematologica"},{"key":"ref1261","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/j.1365-2141.2004.05231.x","article-title":"A review of gene therapy for haematological disorders","volume":"127","author":"Nathwani","year":"2005","journal-title":"Br Haematol"},{"key":"ref461","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1007\/s00439-003-1063-9","article-title":"Single cell co - amplification of poly - morphic markers for the indirect preimplantation genetic diagnosis of hemophilia linked adrenoleukodystro - phy , linked hydrocephalus and incontinentia pigmenti loci on Xq","volume":"47","author":"Gigarel","year":"2004","journal-title":"Hum Genet"},{"key":"ref1001","first-page":"326","article-title":"MA Thrombin generation and phenotypic correlation in haemophilia A","volume":"101","author":"Beltra","year":"2005","journal-title":"Haemophilia"},{"key":"ref241","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1038\/312330a0","article-title":"Expression of active human factor VIII from recombinant DNA clones","volume":"24","author":"Wood","year":"1984","journal-title":"Nature"},{"key":"ref981","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/S0049-3848(02)00026-9","article-title":"Suitability of four polymorphic DNA mark - ers for indirect genetic diagnosis of haemophilia A in Japanese subject","volume":"99","author":"Sawada","year":"2002","journal-title":"Thromb Res"},{"key":"ref1161","first-page":"344","article-title":"The hemophilias from royal genes to gene therapy","volume":"117","author":"Mannucci","year":"2001","journal-title":"Engl J Med"},{"key":"ref381","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1111\/j.1471-0528.2004.00440.x","article-title":"Pre - implantation genetic testing","volume":"39","author":"Grace","year":"2004","journal-title":"Br J Obstet Gynaecol"},{"key":"ref1041","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.1056\/NEJM200104193441607","article-title":"Genetic susceptibility to venous thrombosis","volume":"105","author":"Seligsohn","year":"2001","journal-title":"Engl J Med"},{"key":"ref291","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1046\/j.1365-2141.1999.01631.x","article-title":"Origin of mutation in sporadic case of haemophilia A","volume":"29","author":"Ljung","year":"1999","journal-title":"Br Haematol"},{"key":"ref1211","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1111\/j.1365-2516.2004.00983.x","article-title":"Haemophilic factors produced by transgenic livestock : abundance that can enable alternative therapies world - wide","volume":"122","author":"Van Cott","year":"2004","journal-title":"Haemophilia"},{"key":"ref1281","first-page":"8","article-title":"Multiyear therapeutic benefit of AAV serotypes and delivering factor VIII to hemophilia A mice and dogs","volume":"129","author":"Jiang","year":"2006","journal-title":"Blood"},{"key":"ref1171","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1182\/asheducation-2002.1.1","article-title":"Hemophilia and related bleeding disor - ders : a story of dismay and success","volume":"118","author":"Mannucci","year":"2002","journal-title":"Hematology"},{"key":"ref951","doi-asserted-by":"crossref","first-page":"11","DOI":"10.5483\/BMBRep.2004.37.1.011","article-title":"Global genetic analysis","volume":"96","author":"Elahi","year":"2004","journal-title":"J Biochem Mol Biol"}],"container-title":["Clinical Chemical Laboratory Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/CCLM.2007.093\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,11]],"date-time":"2023-05-11T14:09:19Z","timestamp":1683814159000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/CCLM.2007.093\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,1,1]]},"references-count":119,"journal-issue":{"issue":"4"},"URL":"https:\/\/doi.org\/10.1515\/cclm.2007.093","relation":{},"ISSN":["1434-6621","1437-4331"],"issn-type":[{"value":"1434-6621","type":"electronic"},{"value":"1437-4331","type":"print"}],"subject":[],"published":{"date-parts":[[2007,1,1]]}}}