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dc.contributor.authorGuevara Fujita, María Luisa
dc.contributor.authorFahrner, Stacey
dc.contributor.authorBuraczynska, Kinga
dc.contributor.authorCook, Jason
dc.contributor.authorWheaton, Dianna
dc.contributor.authorCortes, Fanny
dc.contributor.authorVicencio, Cesar
dc.contributor.authorPena, Marcela
dc.contributor.authorFishman, Gerald A.
dc.contributor.authorMintz-Hittner, Helen
dc.contributor.authorBirch, David
dc.contributor.authorHoffman, Dennis
dc.contributor.authorMears, Alan J.
dc.contributor.authorFujita, Ricardo
dc.contributor.authorSwaroop, Anand
dc.creatorGuevara Fujita, María Luisa
dc.date.accessioned2016-03-11T10:52:07Z
dc.date.available2016-03-11T10:52:07Z
dc.date.issued2000
dc.identifier.citationGuevara M., Fahrner S., Buraczynska K., Cook J., Wheaton D., Cortes F., Vicencio C., Pena M., Fishman GA., Mintz H., Birch D., Hoffman Dennis M., Mears AJ., Fujita R., Swaroop A. Five novel RPGR mutations in families with X-linked retinitis pigmentosa. Mutation in Brief 2000;396:1-4es
dc.identifier.issn1098-1004 (Digital)
dc.identifier.otherhttp://journals.wiley.com/1059-7794/pdf/mutation/396.pdf
dc.identifier.urihttps://hdl.handle.net/20.500.12727/1532
dc.description.abstractX-linked forms of retinitis pigmentosa (XLRP) are among the most severe because of their early onset, often leading to significant visual impairment before the fourth decade. RP3, genetically localized at Xp21.1, accounts for 70% of XLRP in different populations. The RPGR (Retinitis Pigmentosa GTPase Regulator) gene that was isolated from the RP3 region is mutated in 20% of North American families with XLRP. From mutation analysis of 27 independent XLRP families, we have identified five novel RPGR mutations in 5 of the families (160delA, 789 A>T, IVS8+1 G>C, 1147insT and 1366 G>A). One of these mutations was detected in a family from Chile.es
dc.format.extent4 p.es
dc.language.isoenges
dc.publisherMutation in Briefes
dc.relation.ispartofseriesMutation in Brief;n. 396
dc.relation.urihttp://onlinelibrary.wiley.com/doi/10.1002/1098-1004(200102)17:2%3C151::AID-HUMU7%3E3.0.CO;2-W/epdfes
dc.rightsinfo:eu-repo/semantics/openAccesses
dc.sourceUniversidad de San Martín de Porres – USMPes
dc.sourceREPOSITORIO ACADÉMICO USMPes
dc.subjectRetinitis pigmentosaes
dc.subjectRetinaes
dc.subject.ddc617.7 - Oftalmologíaes
dc.titleFive Novel RPGR Mutation in brief: Mutations in Families with XLinked Retinitis Pigmentosaes
dc.typeinfo:eu-repo/semantics/articlees
thesis.degree.nameMedicina Humana
thesis.degree.grantorUniversidad de San Martín de Porres. Facultad de Medicina Humana
thesis.degree.disciplineMedicina


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