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Volumn 9, Issue 2, 1996, Pages 211-228

The molecular basis of haemophilia A and B

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9;

EID: 0029947019     PISSN: 09503536     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0950-3536(96)80059-X     Document Type: Article
Times cited : (39)

References (64)
  • 1
    • 0028260471 scopus 로고
    • Activation peptide of human factor IX has oligosaccharides O-glycosidically linked to threonine residues at 159 and 169
    • Agarwala KL Kawabata S-I Takao T Activation peptide of human factor IX has oligosaccharides O-glycosidically linked to threonine residues at 159 and 169 Biochemistry 33 1994 5167 5171
    • (1994) Biochemistry , vol.33 , pp. 5167-5171
    • Agarwala, KL1    Kawabata, S-I2    Takao, T3
  • 2
    • 0026653380 scopus 로고
    • Hemophilia A due to mutations that create new N-glycosylation sites
    • Aly AM Higuchi M Kasper CK Hemophilia A due to mutations that create new N-glycosylation sites Proceedings of the National Academy of Sciences of the USA 89 1992 4933 4937
    • (1992) , pp. 4933-4937
    • Aly, AM1    Higuchi, M2    Kasper, CK3
  • 3
    • 0029095603 scopus 로고
    • Factor VIII inversions in severe haemophilia A: results from an international consortium
    • Antonarakis SE Rossiter JP Young M Factor VIII inversions in severe haemophilia A: results from an international consortium Blood 86 1995 2206 2212
    • (1995) Blood , vol.86 , pp. 2206-2212
    • Antonarakis, SE1    Rossiter, JP2    Young, M3
  • 5
    • 0026660188 scopus 로고
    • The binding of human factor IX to endothelial cells is mediated by residues 3–11
    • Cheung W-F Hamaguchi N Smith KJ Stafford DW The binding of human factor IX to endothelial cells is mediated by residues 3–11 Journal of Biological Chemistry 267 1992 20 529 20 531
    • (1992) Journal of Biological Chemistry , vol.267 , pp. 20 529-20 531
    • Cheung, W-F1    Hamaguchi, N2    Smith, KJ3    Stafford, DW4
  • 6
    • 0019957533 scopus 로고
    • Molecular cloning of the gene for human antihaemophilic factor IX
    • Choo KH Gould KG Rees DJ Brownlee GG Molecular cloning of the gene for human antihaemophilic factor IX Nature 299 1982 178 180
    • (1982) Nature , vol.299 , pp. 178-180
    • Choo, KH1    Gould, KG2    Rees, DJ3    Brownlee, GG4
  • 7
    • 0026767136 scopus 로고
    • Recovery from hemophilia B Leyden: an androgen-responsive element in the factor IX promoter
    • Crossley M Ludwig M Stowell KM Recovery from hemophilia B Leyden: an androgen-responsive element in the factor IX promoter Science 257 1992 377 379
    • (1992) Science , vol.257 , pp. 377-379
    • Crossley, M1    Ludwig, M2    Stowell, KM3
  • 8
    • 0026331048 scopus 로고
    • Isolation of an active human transposable element
    • Dombroski BA Mathias SL Nanthakumar E Isolation of an active human transposable element Science 254 1991 1805 1808
    • (1991) Science , vol.254 , pp. 1805-1808
    • Dombroski, BA1    Mathias, SL2    Nanthakumar, E3
  • 9
    • 0025888388 scopus 로고
    • Activated protein C—catalysed inactivation of human factor VIII and factor VIIIa: identification of cleavage sites and correlation of proteolysis with cofactor activity
    • Fay PJ Smudzin TM Walker FJ Activated protein C—catalysed inactivation of human factor VIII and factor VIIIa: identification of cleavage sites and correlation of proteolysis with cofactor activity Journal of Biological Chemistry 266 1991 20 139 20 145
    • (1991) Journal of Biological Chemistry , vol.266 , pp. 20 139-20 145
    • Fay, PJ1    Smudzin, TM2    Walker, FJ3
  • 10
    • 0028977985 scopus 로고
    • cis-acting elements and transcription factors involved in the promoter activity of the human factor VIII gene
    • Figueiredo MS Brownlee GG cis-acting elements and transcription factors involved in the promoter activity of the human factor VIII gene Journal of Biological Chemistry 270 1995 11 828 11 838
    • (1995) Journal of Biological Chemistry , vol.270 , pp. 11 828-11 838
    • Figueiredo, MS1    Brownlee, GG2
  • 11
    • 1242348114 scopus 로고
    • The nucleotide sequence of the gene for human protein C
    • Foster DC Yoshitake S Davie EW The nucleotide sequence of the gene for human protein C Proceedings of the National Academy of Sciences of the USA 82 1985 4673 4677
    • (1985) , pp. 4673-4677
    • Foster, DC1    Yoshitake, S2    Davie, EW3
  • 12
    • 0026683410 scopus 로고
    • A 1.6 Mb contig of yeast artificial chromosomes around the human factor VIII gene reveals three regions homologous to probes for the DXS115 locus and two from the DXYS64 locus
    • Freije D Schlessinger D A 1.6 Mb contig of yeast artificial chromosomes around the human factor VIII gene reveals three regions homologous to probes for the DXS115 locus and two from the DXYS64 locus American Journal of Human Genetics 51 1992 66 80
    • (1992) American Journal of Human Genetics , vol.51 , pp. 66-80
    • Freije, D1    Schlessinger, D2
  • 13
    • 85114542657 scopus 로고
    • Factor IX
    • Giannelli F Factor IX Tuddenham EGD The Molecular Biology of Coagulation, Baillière's Clinical Haematology vol 2 1989 Baillière Tindall New York 821 848
    • (1989) , pp. 821-848
    • Giannelli, F1
  • 14
    • 0022624434 scopus 로고
    • Cause of the ‘inhibitor’ phenotype in the haemophilias
    • Giannelli F Brownlee GG Cause of the ‘inhibitor’ phenotype in the haemophilias Nature 320 1986 196
    • (1986) Nature , vol.320 , pp. 196
    • Giannelli, F1    Brownlee, GG2
  • 15
    • 0020526790 scopus 로고
    • Gene deletions in patients with haemophilia B and anti-factor IX antibodies
    • Giannelli F Choo KH Rees DJ Gene deletions in patients with haemophilia B and anti-factor IX antibodies Nature 303 1983 181 182
    • (1983) Nature , vol.303 , pp. 181-182
    • Giannelli, F1    Choo, KH2    Rees, DJ3
  • 16
    • 0025292828 scopus 로고
    • Haemophilia B: database of point mutations and short additions and deletions
    • Giannelli F Green PM High KA Haemophilia B: database of point mutations and short additions and deletions Nucleic Acids Research 18 1990 4053 4059
    • (1990) Nucleic Acids Research , vol.18 , pp. 4053-4059
    • Giannelli, F1    Green, PM2    High, KA3
  • 17
    • 0027983535 scopus 로고
    • Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994
    • Giannelli F Green PM Sommer SS Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994 Nucleic Acids Research 22 1994 3534 3546
    • (1994) Nucleic Acids Research , vol.22 , pp. 3534-3546
    • Giannelli, F1    Green, PM2    Sommer, SS3
  • 18
    • 0023730947 scopus 로고
    • Maternal duplication associated with gene deletion in sporadic haemophilia
    • Gitschier J Maternal duplication associated with gene deletion in sporadic haemophilia American Journal of Human Genetics 43 1988 274 279
    • (1988) American Journal of Human Genetics , vol.43 , pp. 274-279
    • Gitschier, J1
  • 19
    • 0021750055 scopus 로고
    • Characterization of the human factor VIII gene
    • Gitschier J Wood WI Goralka TM Characterization of the human factor VIII gene Nature 312 1984 326 330
    • (1984) Nature , vol.312 , pp. 326-330
    • Gitschier, J1    Wood, WI2    Goralka, TM3
  • 20
    • 0025733518 scopus 로고
    • Haemophilia B mutations in a complete Swedish population sample. A test of new strategy for the genetic counselling of diseases with high mutational heterogeneity
    • Green PM Montandon AJ Ljung R Haemophilia B mutations in a complete Swedish population sample. A test of new strategy for the genetic counselling of diseases with high mutational heterogeneity British Journal of Haematology 78 1991 390 397
    • (1991) British Journal of Haematology , vol.78 , pp. 390-397
    • Green, PM1    Montandon, AJ2    Ljung, R3
  • 21
    • 85114552702 scopus 로고
    • The haemophilias
    • Green PM Naylor JA Giannelli F The haemophilias Hall JC Dunlap JC Friedmann T Giannelli F Advances in Genetics incorporating Molecular Genetic Medicine vol 32 1995 Academic Press San Diego 99 139
    • (1995) , pp. 99-139
    • Green, PM1    Naylor, JA2    Giannelli, F3
  • 22
    • 0028658404 scopus 로고
    • In vitro mutagenesis study of two critical glutamic acids in the calcium binding loop of the factor IX heavy chain
    • Hamaguchi N Stafford D In vitro mutagenesis study of two critical glutamic acids in the calcium binding loop of the factor IX heavy chain Thrombosis and Haemostasis 72 1994 856 861
    • (1994) Thrombosis and Haemostasis , vol.72 , pp. 856-861
    • Hamaguchi, N1    Stafford, D2
  • 23
    • 0025908111 scopus 로고
    • Key residues involved in calcium-binding motifs in EGF-like domains
    • Handford PA Mayhew M Baron M Key residues involved in calcium-binding motifs in EGF-like domains Nature 351 1991 164 167
    • (1991) Nature , vol.351 , pp. 164-167
    • Handford, PA1    Mayhew, M2    Baron, M3
  • 24
    • 0028316190 scopus 로고
    • Mutation detection by fluorescent chemical cleavage: application to haemophilia B
    • Haris II Green PM Bentley DR Giannelli F Mutation detection by fluorescent chemical cleavage: application to haemophilia B PCR Methods and Applications 3 1994 268 271
    • (1994) PCR Methods and Applications , vol.3 , pp. 268-271
    • Haris, II1    Green, PM2    Bentley, DR3    Giannelli, F4
  • 25
    • 1842271518 scopus 로고
    • Factor VIII inhibitors
    • Hay CRM Factor VIII inhibitors Haemophilia 1 supplement 2 1995 14 21
    • (1995) Haemophilia , vol.1 , Issue.supplement 2 , pp. 14-21
    • Hay, CRM1
  • 26
    • 0025989429 scopus 로고
    • Towards complete characterization of mild-to-moderate hemophilia A: detection of the molecular defect in 25 of 29 patients by denaturing gradient gel electrophoresis
    • Higuchi M Antonarakis SE Kasch L Towards complete characterization of mild-to-moderate hemophilia A: detection of the molecular defect in 25 of 29 patients by denaturing gradient gel electrophoresis Proceedings of the National Academy of Sciences of the USA 88 1991 8307 8311
    • (1991) , pp. 8307-8311
    • Higuchi, M1    Antonarakis, SE2    Kasch, L3
  • 27
    • 0025820639 scopus 로고
    • Molecular characterisation of some hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene
    • Higuchi M Kazazian HH Kasch L Molecular characterisation of some hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene Proceedings of the National Academy of Science of the USA 88 1991 7405 7409
    • (1991) , pp. 7405-7409
    • Higuchi, M1    Kazazian, HH2    Kasch, L3
  • 28
    • 0023867459 scopus 로고
    • Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man
    • Kazazian HH Wong C Youssoufian H Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man Nature 332 1988 164 166
    • (1988) Nature , vol.332 , pp. 164-166
    • Kazazian, HH1    Wong, C2    Youssoufian, H3
  • 29
    • 0026211963 scopus 로고
    • Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States
    • Ketterling RP Bottema CD Phillips JA Sommer SS Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States Genomics 10 1991 1093 1096
    • (1991) Genomics , vol.10 , pp. 1093-1096
    • Ketterling, RP1    Bottema, CD2    Phillips, JA3    Sommer, SS4
  • 30
    • 0343941338 scopus 로고
    • Isolation and characterization of a cDNA coding for human factor IX
    • Kurachi K Davie EW Isolation and characterization of a cDNA coding for human factor IX Proceedings of the National Academy of Sciences of the USA 79 1982 6461 6464
    • (1982) , pp. 6461-6464
    • Kurachi, K1    Davie, EW2
  • 31
    • 0027520025 scopus 로고
    • Inversions disrupting the factor VIII gene as a common cause of severe hemophilia A
    • Lakich D Kazazian HH Antonarakis SE Gitschier J Inversions disrupting the factor VIII gene as a common cause of severe hemophilia A Nature Genetics 5 1993 236 241
    • (1993) Nature Genetics , vol.5 , pp. 236-241
    • Lakich, D1    Kazazian, HH2    Antonarakis, SE3    Gitschier, J4
  • 32
    • 0026508201 scopus 로고
    • A directed search for mutations in hemophilia A using restriction enzyme analysis and denaturing gradient gel electrophoresis. A study of seven exons in the factor VIII gene of 170 cases
    • Lavergne JM Bahnak RR Vidaud M A directed search for mutations in hemophilia A using restriction enzyme analysis and denaturing gradient gel electrophoresis. A study of seven exons in the factor VIII gene of 170 cases Nouvelle Revuex Française d'Hématologie 34 1992 85 91
    • (1992) Nouvelle Revuex Française d'Hématologie , vol.34 , pp. 85-91
    • Lavergne, JM1    Bahnak, RR2    Vidaud, M3
  • 33
    • 0025118579 scopus 로고
    • A transcribed gene in an intron of the human factor VIII gene
    • Levinson B Kenwrick S Lakish D A transcribed gene in an intron of the human factor VIII gene Genomics 7 1990 1 11
    • (1990) Genomics , vol.7 , pp. 1-11
    • Levinson, B1    Kenwrick, S2    Lakish, D3
  • 34
    • 0026499294 scopus 로고
    • Evidence for a third transcript from the human factor VIII gene
    • Levinson B Kenwrick S Gamel P Evidence for a third transcript from the human factor VIII gene Genomics 14 1992 585 589
    • (1992) Genomics , vol.14 , pp. 585-589
    • Levinson, B1    Kenwrick, S2    Gamel, P3
  • 35
    • 0022871419 scopus 로고
    • Gene for human factor X: a blood coagulation factor whose gene organization is essentially identical with that of factor IX and protein C
    • Leytus SP Foster DC Kurachi K Davie EW Gene for human factor X: a blood coagulation factor whose gene organization is essentially identical with that of factor IX and protein C Biochemistry 25 1986 5098 5102
    • (1986) Biochemistry , vol.25 , pp. 5098-5102
    • Leytus, SP1    Foster, DC2    Kurachi, K3    Davie, EW4
  • 36
    • 0025134069 scopus 로고
    • Expression and characterisation of human factor IX and factor IX-factor X chimeras in mouse C127 cells
    • Lin SW Smith KJ Welsch D Stafford DW Expression and characterisation of human factor IX and factor IX-factor X chimeras in mouse C127 cells Journal of Biological Chemistry 265 1990 144 150
    • (1990) Journal of Biological Chemistry , vol.265 , pp. 144-150
    • Lin, SW1    Smith, KJ2    Welsch, D3    Stafford, DW4
  • 37
    • 0027284771 scopus 로고
    • Severe haemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28
    • Migeon BR McGinnis MJ Antonarakis SE Severe haemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28 Genomics 16 1993 20 25
    • (1993) Genomics , vol.16 , pp. 20-25
    • Migeon, BR1    McGinnis, MJ2    Antonarakis, SE3
  • 38
    • 0025297773 scopus 로고
    • Two factor IX mutations in the family of an isolated haemophilia B patient. Direct carrier diagnosis by amplification mismatch detection (AMD)
    • Montandon AJ Green PM Bentley DR Two factor IX mutations in the family of an isolated haemophilia B patient. Direct carrier diagnosis by amplification mismatch detection (AMD) Human Genetics 85 1990 200 204
    • (1990) Human Genetics , vol.85 , pp. 200-204
    • Montandon, AJ1    Green, PM2    Bentley, DR3
  • 39
    • 0025424502 scopus 로고
    • Illegitimate recombination produced by a duplication within the factor VIII gene in a patient with mild haemophilia A
    • Murru S Casula L Pecorara M Illegitimate recombination produced by a duplication within the factor VIII gene in a patient with mild haemophilia A Genomics 7 1990 115 118
    • (1990) Genomics , vol.7 , pp. 115-118
    • Murru, S1    Casula, L2    Pecorara, M3
  • 40
    • 0025978384 scopus 로고
    • Detection of three novel mutations in two haemophilia A patients by rapidly screening whole essential regions of the factor VIII gene
    • Naylor JA Green PM Montandon JA Detection of three novel mutations in two haemophilia A patients by rapidly screening whole essential regions of the factor VIII gene Lancet 337 1991 635 639
    • (1991) Lancet , vol.337 , pp. 635-639
    • Naylor, JA1    Green, PM2    Montandon, JA3
  • 41
    • 0026730499 scopus 로고
    • Factor VIII gene explains all cases of haemophilia A
    • Naylor JA Green PM Rizza CR Giannelli F Factor VIII gene explains all cases of haemophilia A Lancet 340 1992 1066 1067
    • (1992) Lancet , vol.340 , pp. 1066-1067
    • Naylor, JA1    Green, PM2    Rizza, CR3    Giannelli, F4
  • 42
    • 0027340359 scopus 로고
    • Analysis of factor VIII mRNA reveals defects in every one of 28 haemophilia A patients
    • Naylor JA Green PM Rizza CR Giannelli F Analysis of factor VIII mRNA reveals defects in every one of 28 haemophilia A patients Human Molecular Genetics 2 1993 11 17
    • (1993) Human Molecular Genetics , vol.2 , pp. 11-17
    • Naylor, JA1    Green, PM2    Rizza, CR3    Giannelli, F4
  • 43
    • 0027376685 scopus 로고
    • Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions
    • Naylor J Brinke A Hassock S Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions Human Molecular Genetics 2 1993 1773 1778
    • (1993) Human Molecular Genetics , vol.2 , pp. 1773-1778
    • Naylor, J1    Brinke, A2    Hassock, S3
  • 44
    • 0029047999 scopus 로고
    • Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions
    • Naylor JA Buck D Green P Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions Human Molecular Genetics 4 1995 1217 1224
    • (1995) Human Molecular Genetics , vol.4 , pp. 1217-1224
    • Naylor, JA1    Buck, D2    Green, P3
  • 45
    • 0029865231 scopus 로고    scopus 로고
    • A novel DNA inversion causing severe haemophilia A
    • (in press) Naylor JA Nicholson P Goodeve A A novel DNA inversion causing severe haemophilia A Blood 1996
    • (1996) Blood
    • Naylor, JA1    Nicholson, P2    Goodeve, A3
  • 46
    • 0004330552 scopus 로고
    • Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation
    • O'Hara PJ Grant FJ Haldeman BA Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation Proceedings of the National Academy of Sciences of the USA 84 1987 5158 5162
    • (1987) , pp. 5158-5162
    • O'Hara, PJ1    Grant, FJ2    Haldeman, BA3
  • 47
    • 0026511729 scopus 로고
    • Identification and functional importance of tyrosine sulfate residues within recombinant factor VIII
    • Pittman DD Wang JH Kaufman RJ Identification and functional importance of tyrosine sulfate residues within recombinant factor VIII Biochemistry 31 1992 3315 3325
    • (1992) Biochemistry , vol.31 , pp. 3315-3325
    • Pittman, DD1    Wang, JH2    Kaufman, RJ3
  • 48
    • 0028303798 scopus 로고
    • Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations
    • Roberts RG Gardner RJ Bobrow M Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations Human Mutations 4 1994 1 11
    • (1994) Human Mutations , vol.4 , pp. 1-11
    • Roberts, RG1    Gardner, RJ2    Bobrow, M3
  • 49
    • 0029593548 scopus 로고
    • Ultrarapid mutation detection by multiplex, solid phase chemical cleavage
    • Rowley G Saad S Giannelli F Green PM Ultrarapid mutation detection by multiplex, solid phase chemical cleavage Genomics 30 1995 574 582
    • (1995) Genomics , vol.30 , pp. 574-582
    • Rowley, G1    Saad, S2    Giannelli, F3    Green, PM4
  • 50
    • 0028345068 scopus 로고
    • First report on UK database of haemophilia B mutations and pedigrees
    • Saad S Rowley G Tagliavacca L First report on UK database of haemophilia B mutations and pedigrees Thrombosis and Haemostasis 71 1994 563 570
    • (1994) Thrombosis and Haemostasis , vol.71 , pp. 563-570
    • Saad, S1    Rowley, G2    Tagliavacca, L3
  • 51
    • 0024358111 scopus 로고
    • Protein structural requirements and properties of membrane binding by γ-carboxyglutamic acid-containing plasma proteins and peptides
    • Schwalbe RA Ryan J Stern DM Protein structural requirements and properties of membrane binding by γ-carboxyglutamic acid-containing plasma proteins and peptides Journal of Biological Chemistry 264 1989 20 288 20 296
    • (1989) Journal of Biological Chemistry , vol.264 , pp. 20 288-20 296
    • Schwalbe, RA1    Ryan, J2    Stern, DM3
  • 52
    • 0023202626 scopus 로고
    • Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present
    • Schwartz C Fitch N Phelan MC Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present Human Genetics 76 1987 64 67
    • (1987) Human Genetics , vol.76 , pp. 64-67
    • Schwartz, C1    Fitch, N2    Phelan, MC3
  • 53
    • 0021314059 scopus 로고
    • Genetic predisposition to inhibitor formation
    • Shapiro SS Genetic predisposition to inhibitor formation Hoyer LW Factor VIII Inhibitors 1984 Alan R Liss New York 45 55
    • (1984) , pp. 45-55
    • Shapiro, SS1
  • 54
    • 0027193630 scopus 로고
    • The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
    • Sheffield VC Beck JS Kwitek AE The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions Genomics 16 1993 325 332
    • (1993) Genomics , vol.16 , pp. 325-332
    • Sheffield, VC1    Beck, JS2    Kwitek, AE3
  • 56
    • 0021715169 scopus 로고
    • Molecular cloning of a cDNA encoding human anti-haemophilic factor
    • Toole JJ Knopf JL Wozney JM Molecular cloning of a cDNA encoding human anti-haemophilic factor Nature 312 1984 342 347
    • (1984) Nature , vol.312 , pp. 342-347
    • Toole, JJ1    Knopf, JL2    Wozney, JM3
  • 57
    • 0003555650 scopus 로고
    • The molecular genetics of haemostasis and its inherited disorders. Oxford Monographs on Medical Genetics, Volume 25
    • Tuddenham EGD Cooper DN The molecular genetics of haemostasis and its inherited disorders. Oxford Monographs on Medical Genetics, Volume 25 1994 Oxford University Press Oxford
    • (1994)
    • Tuddenham, EGD1    Cooper, DN2
  • 58
    • 18844473167 scopus 로고
    • Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition
    • Tuddenham EGD Schwaab R Seehafer J Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition Nucleic Acids Research 22 1994 4851 4868
    • (1994) Nucleic Acids Research , vol.22 , pp. 4851-4868
    • Tuddenham, EGD1    Schwaab, R2    Seehafer, J3
  • 59
    • 0021677942 scopus 로고
    • Structure of human factor VIII
    • Vehar GA Keyt B Eaton D Structure of human factor VIII Nature 312 1984 337 347
    • (1984) Nature , vol.312 , pp. 337-347
    • Vehar, GA1    Keyt, B2    Eaton, D3
  • 60
    • 0023028738 scopus 로고
    • A de novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B
    • Vidaud M Chabret C Gazengel C A de novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B Blood 68 1986 961 963
    • (1986) Blood , vol.68 , pp. 961-963
    • Vidaud, M1    Chabret, C2    Gazengel, C3
  • 62
    • 0027283812 scopus 로고
    • A mutation in the 3′ untranslated region of the factor IX gene in four families with hemophilia B
    • Vielhaber E Jacobson DP Ketterling RP A mutation in the 3′ untranslated region of the factor IX gene in four families with hemophilia B Human Molecular Genetics 2 1993 1309 1310
    • (1993) Human Molecular Genetics , vol.2 , pp. 1309-1310
    • Vielhaber, E1    Jacobson, DP2    Ketterling, RP3
  • 63
    • 0022257323 scopus 로고
    • Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)
    • Yoshitake S Schach BG Foster DC Nucleotide sequence of the gene for human factor IX (antihemophilic factor B) Biochemistry 24 1985 3736 3750
    • (1985) Biochemistry , vol.24 , pp. 3736-3750
    • Yoshitake, S1    Schach, BG2    Foster, DC3
  • 64
    • 0023224858 scopus 로고
    • Characterization of five partial deletions of the factor VIII gene
    • Youssoufian H Antonarakis SE Aronis S Characterization of five partial deletions of the factor VIII gene Proceedings of the National Academy of Sciences of the USA 84 1987 3772 3776
    • (1987) , pp. 3772-3776
    • Youssoufian, H1    Antonarakis, SE2    Aronis, S3


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