Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/41601
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dc.contributor.authorMantilla-Capacho, J.M.
dc.contributor.authorBeltran-Miranda, C.P.
dc.contributor.authorLuna-Zaizar, H.
dc.contributor.authorAguilar-Lopez, L.
dc.contributor.authorEsparza-Flores, M.A.
dc.contributor.authorLopez-Guido, B.
dc.contributor.authorTroyo-Sanroman, R.
dc.contributor.authorJaloma-Cruz, A.R.
dc.date.accessioned2015-09-15T18:00:21Z-
dc.date.available2015-09-15T18:00:21Z-
dc.date.issued2007
dc.identifier.urihttp://hdl.handle.net/20.500.12104/41657-
dc.identifier.urihttp://www.scopus.com/inward/record.url?eid=2-s2.0-0008448719&partnerID=40&md5=bb89f49e4a43ef0abe9a273b86a994c2
dc.description.abstractHemophilia A (HA) is one of the most common inherited bleeding disorders caused by FVIII gene mutations. Inversion of intron 22 (inv22) originates 50% of cases of severe HA and is a major risk factor for inhibitor development. Inversion of intron 1 (inv1) has been reported to occur in 2-3% of severe HA patients. We studied both inversions to determine their frequencies in Mexican patients with severe HA and to compare these data with other HA populations. The inv22 was evaluated as a risk factor for FVIII inhibitor development in severe HA patients. We studied 44 patients from 31 severe HA families for the detection of inv22 and 94 patients from 65 families to detect inv1. We used the subcycling long-distance PCR to detect inv22 and rapid PCR in duplex reactions to detect inv1. We found a frequency of 45% for the inv22 and no inv1-positive patients (0%). These frequencies were not statistically different from other populations, although haplotype analyses of FVIII gene and telomeric regions should be incorporated to explore population-specific variation of inv1 frequencies. Inv22-positive patients showed 1.88X higher risk for developing inhibitors with respect to patients carrying other severe mutations; however, this OR value was not significant. Our findings confirm inv22 as a hot-spot for severe HA and evidence the low frequency of inv1 in a Mexican population. The non-significant risk for developing inhibitors among inv22-positive patients agrees with the variety of genetic and non-genetic factors involved in such a complication. " 2007 Wiley-Liss, Inc.",,,,,,"10.1002/ajh.20865",,,"http://hdl.handle.net/20.500.12104/41601","http://www.scopus.com/inward/record.url?eid=2-s2.0-34147141408&partnerID=40&md5=891108c40f71e32d75de6cdd8be9d08a",,,,,,"4",,"American Journal of Hematology",,"283
dc.description.abstract287",,"82",,"Scopus
dc.description.abstractWOS",,,,,,"Anti-FVIII antibodies; Frequencies in Mexican population; Intron 1 & intron 22 inversions; Population frequencies of inversions; Severe hemophilia A",,,,,,"Frequency of intron 1 and 22 inversions of factor VIII gene in Mexican patients with severe hemophilia A",,"Article" "43436","123456789/35008",,"Klimov, A.B., Departamento de Física, Universidad de Guadalajara, Corregidora 500, 44100 Guadalajara, Jal., Mexico; Chumakov, S.M., IIMAS, Univ. Nac. Auton. de México, Apartado Postal 48-3, 62251 Cuernavaca, Mor., Mexico
dc.description.abstractKlimov, Andrei B., Universidad de Guadalajara. Centro Universitario de Ciencias Exactas e Ingenierías",,"Klimov, Andrei B.
dc.description.abstractChumakov, S.M.",,"1997",,"We show that the phase distribution function for a strong quantum radiation field can be represented in terms of the Jacobi elliptic function ?3(z | q). This representation simplifies calculation of phase properties of the field. " 1997 Elsevier Science B.V.
dc.relation.isreferencedbyScopus
dc.relation.isreferencedbyWOS
dc.titleGaussians on the circle and quantum phase
dc.typeArticle
dc.relation.ispartofjournalPhysics Letters, Section A: General, Atomic and Solid State Physics
dc.relation.ispartofvolume235
dc.relation.ispartofissue1
dc.relation.ispartofpage7
dc.relation.ispartofpage14
dc.contributor.affiliationMantilla-Capacho, J.M., División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Mexico, Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Beltrán-Miranda, C.P., División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Mexico, Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Luna-Záizar, H., Departamento de Farmacobiología, Centro Universitario de Ciencias Exactas e Ingenierías, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Aguilar-López, L., Servicio de Hematología, Hospital de Especialidades, IMSS, Guadalajara, Jalisco, Mexico; Esparza-Flores, M.A., Servicio de Hematología, Hospital de Pediatría, IMSS, Guadalajara, Jalisco, Mexico; López-Guido, B., Servicio de Hematología, Hospital de Pediatría, IMSS, Guadalajara, Jalisco, Mexico; Troyo-Sanromán, R., Departamento de Fisiología, Centro Universitario Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Jaloma-Cruz, A.R., División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Mexico, Centro de Investigation Biomédica de Occidente, IMSS, Sierra Mojada 800, CP 44340, Guadalajara, Jalisco, Mexico
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