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- Anson D. S., Choo K. H., Rees D. J., Giannelli F., Gould K., Huddleston J. A., Brownlee G. G. The gene structure of human anti-haemophilic factor IX. EMBO J. 1984 May;3(5):1053–1060. doi: 10.1002/j.1460-2075.1984.tb01926.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Cotton R. G., Rodrigues N. R., Campbell R. D. Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc Natl Acad Sci U S A. 1988 Jun;85(12):4397–4401. doi: 10.1073/pnas.85.12.4397. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Crossley M., Brownlee G. G. Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B. Nature. 1990 May 31;345(6274):444–446. doi: 10.1038/345444a0. [DOI] [PubMed] [Google Scholar]
- GRIGORIAN A. V., VOL'-EPSHTEIN G. L., ZHDONOV V. S., RYZHKOV E. V. Ob epitelial'nykh dobrokachestvennykh opukholiakh legkogo. Khirurgiia (Mosk) 1959 Jan;35(1):29–32. [PubMed] [Google Scholar]
- Giannelli F., Brownlee G. G. Cause of the 'inhibitor' phenotype in the haemophilias. Nature. 1986 Mar 13;320(6058):196–196. doi: 10.1038/320196a0. [DOI] [PubMed] [Google Scholar]
- Giannelli F., Choo K. H., Rees D. J., Boyd Y., Rizza C. R., Brownlee G. G. Gene deletions in patients with haemophilia B and anti-factor IX antibodies. Nature. 1983 May 12;303(5913):181–182. doi: 10.1038/303181a0. [DOI] [PubMed] [Google Scholar]
- Giannelli F., Green P. M., High K. A., Sommer S., Lillicrap D. P., Ludwig M., Olek K., Reitsma P. H., Goossens M., Yoshioka A. Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992. Nucleic Acids Res. 1992 May 11;20 (Suppl):2027–2063. doi: 10.1093/nar/20.suppl.2027. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Green P. M., Bentley D. R., Mibashan R. S., Nilsson I. M., Giannelli F. Molecular pathology of haemophilia B. EMBO J. 1989 Apr;8(4):1067–1072. doi: 10.1002/j.1460-2075.1989.tb03474.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Green P. M., Montandon A. J., Bentley D. R., Giannelli F. Genetics and molecular biology of haemophilias A and B. Blood Coagul Fibrinolysis. 1991 Aug;2(4):539–565. doi: 10.1097/00001721-199108000-00007. [DOI] [PubMed] [Google Scholar]
- Green P. M., Montandon A. J., Bentley D. R., Ljung R., Nilsson I. M., Giannelli F. The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots. Nucleic Acids Res. 1990 Jun 11;18(11):3227–3231. doi: 10.1093/nar/18.11.3227. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Green P. M., Montandon A. J., Ljung R., Bentley D. R., Nilsson I. M., Kling S., Giannelli F. Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity. Br J Haematol. 1991 Jul;78(3):390–397. doi: 10.1111/j.1365-2141.1991.tb04453.x. [DOI] [PubMed] [Google Scholar]
- Green P. M., Montandon A. J., Ljung R., Nilsson I. M., Giannelli F. Haplotype analysis of identical factor IX mutants using PCR. Thromb Haemost. 1992 Jan 23;67(1):66–69. [PubMed] [Google Scholar]
- Kling S., Coffey A. J., Ljung R., Sjörin E., Nilsson I. M., Holmberg L., Giannelli F. Moderate haemophilia B in a female carrier caused by preferential inactivation of the paternal X chromosome. Eur J Haematol. 1991 Oct;47(4):257–261. doi: 10.1111/j.1600-0609.1991.tb01568.x. [DOI] [PubMed] [Google Scholar]
- Kling S., Ljung R., Sjörin E., Montandon J., Green P., Giannelli F., Nilsson I. M. Origin of mutation in sporadic cases of haemophilia-B. Eur J Haematol. 1992 Mar;48(3):142–145. doi: 10.1111/j.1600-0609.1992.tb00585.x. [DOI] [PubMed] [Google Scholar]
- Montandon A. J., Green P. M., Bentley D. R., Ljung R., Kling S., Nilsson I. M., Giannelli F. Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden. Hum Genet. 1992 May;89(3):319–322. doi: 10.1007/BF00220550. [DOI] [PubMed] [Google Scholar]
- Montandon A. J., Green P. M., Bentley D. R., Ljung R., Nilsson I. M., Giannelli F. Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD). Hum Genet. 1990 Jul;85(2):200–204. doi: 10.1007/BF00193196. [DOI] [PubMed] [Google Scholar]
- Montandon A. J., Green P. M., Giannelli F., Bentley D. R. Direct detection of point mutations by mismatch analysis: application to haemophilia B. Nucleic Acids Res. 1989 May 11;17(9):3347–3358. doi: 10.1093/nar/17.9.3347. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Naylor J. A., Green P. M., Montandon A. J., Rizza C. R., Giannelli F. Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene. Lancet. 1991 Mar 16;337(8742):635–639. doi: 10.1016/0140-6736(91)92450-g. [DOI] [PubMed] [Google Scholar]
- O'Hara P. J., Grant F. J., Haldeman B. A., Gray C. L., Insley M. Y., Hagen F. S., Murray M. J. Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation. Proc Natl Acad Sci U S A. 1987 Aug;84(15):5158–5162. doi: 10.1073/pnas.84.15.5158. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Reitsma P. H., Bertina R. M., Ploos van Amstel J. K., Riemens A., Briët E. The putative factor IX gene promoter in hemophilia B Leyden. Blood. 1988 Sep;72(3):1074–1076. [PubMed] [Google Scholar]
- Reitsma P. H., Mandalaki T., Kasper C. K., Bertina R. M., Briët E. Two novel point mutations correlate with an altered developmental expression of blood coagulation factor IX (hemophilia B Leyden phenotype). Blood. 1989 Feb 15;73(3):743–746. [PubMed] [Google Scholar]
- Rizza C. R., Spooner R. J. Treatment of haemophilia and related disorders in Britain and Northern Ireland during 1976-80: report on behalf of the directors of haemophilia centres in the United Kingdom. Br Med J (Clin Res Ed) 1983 Mar 19;286(6369):929–933. doi: 10.1136/bmj.286.6369.929. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Roberts R. G., Bobrow M., Bentley D. R. Point mutations in the dystrophin gene. Proc Natl Acad Sci U S A. 1992 Mar 15;89(6):2331–2335. doi: 10.1073/pnas.89.6.2331. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Tsang T. C., Bentley D. R., Mibashan R. S., Giannelli F. A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanism. EMBO J. 1988 Oct;7(10):3009–3015. doi: 10.1002/j.1460-2075.1988.tb03164.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Yoshitake S., Schach B. G., Foster D. C., Davie E. W., Kurachi K. Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry. 1985 Jul 2;24(14):3736–3750. doi: 10.1021/bi00335a049. [DOI] [PubMed] [Google Scholar]

