Five Novel RPGR Mutation in brief: Mutations in Families with XLinked Retinitis Pigmentosa

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X-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 GTPas...

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Detalles Bibliográficos
Autores: Guevara Fujita, María Luisa, Fahrner, Stacey, Buraczynska, Kinga, Cook, Jason, Wheaton, Dianna, Cortes, Fanny, Vicencio, Cesar, Pena, Marcela, Fishman, Gerald A., Mintz-Hittner, Helen, Birch, David, Hoffman, Dennis, Mears, Alan J., Fujita, Ricardo, Swaroop, Anand
Formato: artículo
Fecha de Publicación:2000
Institución:Universidad de San Martín de Porres
Repositorio:USMP-Institucional
Lenguaje:inglés
OAI Identifier:oai:repositorio.usmp.edu.pe:20.500.12727/1532
Enlace del recurso:http://journals.wiley.com/1059-7794/pdf/mutation/396.pdf
https://hdl.handle.net/20.500.12727/1532
https://doi.org/10.1002/1098-1004(200102)17:2%3C151::AID-HUMU7%3E3.0.CO;2-W
Nivel de acceso:acceso abierto
Materia:Retinitis pigmentosa
Retina
617.7 - Oftalmología
https://purl.org/pe-repo/ocde/ford#3.02.00
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spelling Guevara Fujita, María LuisaFahrner, StaceyBuraczynska, KingaCook, JasonWheaton, DiannaCortes, FannyVicencio, CesarPena, MarcelaFishman, Gerald A.Mintz-Hittner, HelenBirch, DavidHoffman, DennisMears, Alan J.Fujita, RicardoSwaroop, AnandGuevara Fujita, María Luisa2016-03-11T10:52:07Z2016-03-11T10:52:07Z2000Guevara 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;396:1-4http://journals.wiley.com/1059-7794/pdf/mutation/396.pdfhttps://hdl.handle.net/20.500.12727/1532https://doi.org/10.1002/1098-1004(200102)17:2%3C151::AID-HUMU7%3E3.0.CO;2-WX-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.4 p.engMutation in Briefurn:issn:1098-1004Mutation in Brief;n. 396info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-nd/4.0/Universidad de San Martín de Porres - USMPRepositorio Académico USMPreponame:USMP-Institucionalinstname:Universidad de San Martín de Porresinstacron:USMPRetinitis pigmentosaRetina617.7 - Oftalmologíahttps://purl.org/pe-repo/ocde/ford#3.02.00Five Novel RPGR Mutation in brief: Mutations in Families with XLinked Retinitis Pigmentosainfo:eu-repo/semantics/articleMedicina HumanaUniversidad de San Martín de Porres. Facultad de Medicina HumanaMedicinaORIGINALguevara_fml2.pdfguevara_fml2.pdfTrabajoapplication/pdf24287https://repositorio.usmp.edu.pe/bitstream/20.500.12727/1532/3/guevara_fml2.pdf174017f55c236f7d1b8f075e77f6a0fdMD53LICENSElicense.txtlicense.txttext/plain; charset=utf-8278https://repositorio.usmp.edu.pe/bitstream/20.500.12727/1532/2/license.txt633688df9205d2df6cc070b8e45b7948MD52TEXTguevara_fml2.pdf.txtguevara_fml2.pdf.txtExtracted texttext/plain12433https://repositorio.usmp.edu.pe/bitstream/20.500.12727/1532/4/guevara_fml2.pdf.txtb63cc2c687e358fd7595799fa5b9c26cMD54THUMBNAILguevara_fml2.pdf.jpgguevara_fml2.pdf.jpgGenerated Thumbnailimage/jpeg8235https://repositorio.usmp.edu.pe/bitstream/20.500.12727/1532/5/guevara_fml2.pdf.jpgcf46b107604589b9855fb8964021768eMD5520.500.12727/1532oai:repositorio.usmp.edu.pe:20.500.12727/15322025-08-15 10:33:22.685REPOSITORIO ACADEMICO USMPrepositorio@usmp.peTG9zIHVzb3MgY29tZXJjaWFsZXMgeSBsYSBlbGFib3JhY2nDs24gZGUgb2JyYXMgZGVyaXZhZGFzIHBvciBwYXJ0ZSBkZSB0ZXJjZXJvcwogZGVwZW5kZXLDoW4gZGUgbGFzIGxpY2VuY2lhcyBDcmVhdGl2ZSBDb21tb25zIG90b3JnYWRhcyBpbmRpdmlkdWFsbWVudGUgcG9yIGVsIAp0aXR1bGFyIGRlIGxhIG9icmEgYWwgYXV0b3JpemFyIGxhIHB1YmxpY2FjacOzbiBkZSBzdXMgb2JyYXMgZW4gZWwgClJFUE9TSVRPUklPIEFDQUTDiU1JQ08gVVNNUC4KCkxpbWEsIG9jdHVicmUgMjAxNAo=
dc.title.es_PE.fl_str_mv Five Novel RPGR Mutation in brief: Mutations in Families with XLinked Retinitis Pigmentosa
title Five Novel RPGR Mutation in brief: Mutations in Families with XLinked Retinitis Pigmentosa
spellingShingle Five Novel RPGR Mutation in brief: Mutations in Families with XLinked Retinitis Pigmentosa
Guevara Fujita, María Luisa
Retinitis pigmentosa
Retina
617.7 - Oftalmología
https://purl.org/pe-repo/ocde/ford#3.02.00
title_short Five Novel RPGR Mutation in brief: Mutations in Families with XLinked Retinitis Pigmentosa
title_full Five Novel RPGR Mutation in brief: Mutations in Families with XLinked Retinitis Pigmentosa
title_fullStr Five Novel RPGR Mutation in brief: Mutations in Families with XLinked Retinitis Pigmentosa
title_full_unstemmed Five Novel RPGR Mutation in brief: Mutations in Families with XLinked Retinitis Pigmentosa
title_sort Five Novel RPGR Mutation in brief: Mutations in Families with XLinked Retinitis Pigmentosa
dc.creator.none.fl_str_mv Guevara Fujita, María Luisa
author Guevara Fujita, María Luisa
author_facet Guevara Fujita, María Luisa
Fahrner, Stacey
Buraczynska, Kinga
Cook, Jason
Wheaton, Dianna
Cortes, Fanny
Vicencio, Cesar
Pena, Marcela
Fishman, Gerald A.
Mintz-Hittner, Helen
Birch, David
Hoffman, Dennis
Mears, Alan J.
Fujita, Ricardo
Swaroop, Anand
author_role author
author2 Fahrner, Stacey
Buraczynska, Kinga
Cook, Jason
Wheaton, Dianna
Cortes, Fanny
Vicencio, Cesar
Pena, Marcela
Fishman, Gerald A.
Mintz-Hittner, Helen
Birch, David
Hoffman, Dennis
Mears, Alan J.
Fujita, Ricardo
Swaroop, Anand
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Guevara Fujita, María Luisa
Fahrner, Stacey
Buraczynska, Kinga
Cook, Jason
Wheaton, Dianna
Cortes, Fanny
Vicencio, Cesar
Pena, Marcela
Fishman, Gerald A.
Mintz-Hittner, Helen
Birch, David
Hoffman, Dennis
Mears, Alan J.
Fujita, Ricardo
Swaroop, Anand
dc.subject.es_PE.fl_str_mv Retinitis pigmentosa
Retina
topic Retinitis pigmentosa
Retina
617.7 - Oftalmología
https://purl.org/pe-repo/ocde/ford#3.02.00
dc.subject.ddc.es_PE.fl_str_mv 617.7 - Oftalmología
dc.subject.ocde.es_PE.fl_str_mv https://purl.org/pe-repo/ocde/ford#3.02.00
description X-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.
publishDate 2000
dc.date.accessioned.none.fl_str_mv 2016-03-11T10:52:07Z
dc.date.available.none.fl_str_mv 2016-03-11T10:52:07Z
dc.date.issued.fl_str_mv 2000
dc.type.es_PE.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.citation.es_PE.fl_str_mv Guevara 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;396:1-4
dc.identifier.other.none.fl_str_mv http://journals.wiley.com/1059-7794/pdf/mutation/396.pdf
dc.identifier.uri.none.fl_str_mv https://hdl.handle.net/20.500.12727/1532
dc.identifier.doi.none.fl_str_mv https://doi.org/10.1002/1098-1004(200102)17:2%3C151::AID-HUMU7%3E3.0.CO;2-W
identifier_str_mv Guevara 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;396:1-4
url http://journals.wiley.com/1059-7794/pdf/mutation/396.pdf
https://hdl.handle.net/20.500.12727/1532
https://doi.org/10.1002/1098-1004(200102)17:2%3C151::AID-HUMU7%3E3.0.CO;2-W
dc.language.iso.es_PE.fl_str_mv eng
language eng
dc.relation.ispartof.none.fl_str_mv urn:issn:1098-1004
dc.relation.ispartofseries.none.fl_str_mv Mutation in Brief;n. 396
dc.rights.es_PE.fl_str_mv info:eu-repo/semantics/openAccess
dc.rights.uri.es_PE.fl_str_mv https://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-nd/4.0/
dc.format.extent.es_PE.fl_str_mv 4 p.
dc.publisher.es_PE.fl_str_mv Mutation in Brief
dc.source.es_PE.fl_str_mv Universidad de San Martín de Porres - USMP
Repositorio Académico USMP
dc.source.none.fl_str_mv reponame:USMP-Institucional
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Five Novel RPGR Mutation in brief: Mutations in Families with XLinked Retinitis Pigmentosa
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