Online Mendelian Inheritance in Man (OMIM)
- ️Mon Apr 11 2011
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Girolami, A., Patrassi, G., Cappellato, G., Casonato, A. Another family with the factor VII Padua clotting defect. Acta Haemat. 62: 4-11, 1979.
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Kroll, A. J., Alexander, B., Cochios, F., Pechet, L. Hereditary deficiencies of clotting factors VII and X associated with carotid-body tumors. New Eng. J. Med. 270: 6-13, 1964. [PubMed: 14062129] [Full Text: https://doi.org/10.1056/NEJM196401022700102]
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Marchetti, G., Patracchini, P., Gemmati, D., DeRosa, V., Pinotti, M., Rodorigo, G., Casonato, A., Girolami, A., Bernardi, F. Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7). Hum. Genet. 89: 497-502, 1992. [PubMed: 1634227] [Full Text: https://doi.org/10.1007/BF00219173]
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Mariani, G., Mazzucconi, M. G., Hermans, J., Ciavarella, N., Faiella, A., Hassan, H. J., Mannucci, P. M., Nenci, G. G., Orlando, M., Romoli, D., Mandelli, F. Factor VII deficiency: immunological characterization of genetic variants and detection of carriers. Brit. J. Haemat. 48: 7-14, 1981. [PubMed: 7248191] [Full Text: https://doi.org/10.1111/j.1365-2141.1981.00007.x]
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McVey, J. H., Boswell, E., Mumford, A. D., Kemball-Cook, G., Tuddenham, E. G. D. Factor VII deficiency and the FVII mutation database. Hum. Mutat. 17: 3-17, 2001. [PubMed: 11139238] [Full Text: https://doi.org/10.1002/1098-1004(2001)17:1<3::AID-HUMU2>3.0.CO;2-V]
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McVey, J. H., Boswell, E. J., Takamiya, O., Tamagnini, G., Valente, V., Fidalgo, T., Layton, M., Tuddenham, E. G. D. Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency. Blood 92: 920-926, 1998. [PubMed: 9680360]
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Pfeiffer, R. A., Ott, R., Gilgenkrantz, S., Alexandre, P. Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34): evidence from two cases with 46,XY,t(13;Y)(q11;q34). Hum. Genet. 62: 358-360, 1982. [PubMed: 6985471] [Full Text: https://doi.org/10.1007/BF00304557]
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Shen, M.-C., Lin, J.-S., Lin, S.-W., Yang, W.-S., Lin, B. Novel mutations in the factor VII gene of Taiwanese factor VII-deficient patients. Brit. J. Haemat. 112: 566-571, 2001. [PubMed: 11260055] [Full Text: https://doi.org/10.1046/j.1365-2141.2001.02547.x]
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Shih, L.-Y., Hung, I.-J. Hereditary factor VII deficiency in a Chinese family. Scand. J. Haemat. 30: 97-102, 1983. [PubMed: 6836231] [Full Text: https://doi.org/10.1111/j.1600-0609.1983.tb01450.x]
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Spurling, N. W., Burton, L. K., Peacock, R., Pilling, T. Hereditary factor-VII deficiency in the beagle. Brit. J. Haemat. 23: 59-68, 1972. [PubMed: 5045961] [Full Text: https://doi.org/10.1111/j.1365-2141.1972.tb03459.x]
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Takamiya, O., Hino, K. A patient homozygous for a gly354-to-cys mutation in factor VII that results in severely impaired secretion of the molecule, but not complete deficiency. Brit. J. Haemat. 124: 336-342, 2004. [PubMed: 14717781] [Full Text: https://doi.org/10.1046/j.1365-2141.2003.04778.x]
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Takamiya, O., Okimoto, Y. Severe factor VII deficiency with recurrent intracranial haemorrhages owing to double heterozygosity for a splice site mutation of an IVS4 and a novel nonsense mutation in exon 8 (Gln211-Term). Brit. J. Haemat. 114: 369-374, 2001. [PubMed: 11529858] [Full Text: https://doi.org/10.1046/j.1365-2141.2001.02932.x]
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Tamary, H., Fromovich, Y., Shalmon, L., Reich, Z., Dym, O., Lanir, N., Brenner, B., Paz, M., Luder, A. S., Blau, O., Korostishevsky, M., Zaizov, R., Seligsohn, U. Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews. Thromb. Haemost. 76: 283-291, 1996. [PubMed: 8883260]
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Triplett, D. A., Brandt, J. T., Batard, M. A. M., Dixon, J. L. S., Fair, D. S. Hereditary factor VII deficiency: heterogeneity defined by combined functional and immunochemical analysis. Blood 66: 1284-1287, 1985. [PubMed: 4063521]
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