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dc.contributor.CRUESPUniversidade Estadual de Campinaspt_BR
dc.typeArtigo de periódicopt_BR
dc.titleNovel human CRYGD rare variant in a Brazilian family with congenital cataractpt_BR
dc.contributor.authorde Figueiredo, ESpt_BR
dc.contributor.authorGiordano, GGpt_BR
dc.contributor.authorTavares, Apt_BR
dc.contributor.authorda Silva, MJpt_BR
dc.contributor.authorde Vasconcellos, JPCpt_BR
dc.contributor.authorArieta, CELpt_BR
dc.contributor.authorde Melo, MBpt_BR
unicamp.author.emaileugsantana@ig.com.brpt_BR
unicamp.authorde Figueiredo, Eugenio Santana Giordano, Gabriel Gorgone Cabral de Vasconcellos, Jose Paulo Leite Arieta, Carlos Eduardo Univ Campinas UNICAMP, Fac Med Sci, Dept Ophthalmol, BR-13083887 Sao Paulo, Brazilpt_BR
unicamp.authorde Figueiredo, Eugenio Santana Tavares, Anderson da Silva, Marcio Jose Cabral de Vasconcellos, Jose Paulo de Melo, Monica Barbosa Univ Campinas UNICAMP, Ctr Mol Biol & Genet Engn CBMEG, Lab Human Mol Genet, BR-13083887 Sao Paulo, Brazilpt_BR
dc.subject.wosGenetic-heterogeneitypt_BR
dc.subject.wosInherited Cataractpt_BR
dc.subject.wosNuclear Cataractpt_BR
dc.subject.wosMutationpt_BR
dc.subject.wosLinkagept_BR
dc.subject.wosLenspt_BR
dc.subject.wosCryaapt_BR
dc.description.abstractPurpose: To describe a novel polymorphism in the gamma D-crystallin (CRYGD) gene in a Brazilian family with congenital cataract. Methods: A Brazilian four-generation family was analyzed. The proband had bilateral lamellar cataract and the phenotypes were classified by slit lamp examination. Genomic DNA was extracted from peripheral blood and coding regions and intron/exon boundaries of the alpha A-crystallin (CRYAA), gamma C-crystallin (CRYGC), and CRYGD genes were amplified by polymerase chain reaction and directly sequenced. Results: Sequencing of the coding regions of CRYGD showed the presence of a heterozygous A -> G transversion at c. 401 position, which results in the substitution of a tyrosine to a cysteine (Y134C). The polymorphism was identified in three individuals, two affected and one unaffected. Conclusions: A novel rare variant in CRYGD (Y134C) was detected in a Brazilian family with congenital cataract. Because there is no segregation between the substitution and the phenotypes in this family, other genetic alterations are likely to be present.pt
dc.relation.ispartofMolecular Visionpt_BR
dc.relation.ispartofabbreviationMol. Vis.pt_BR
dc.publisher.cityAtlantapt_BR
dc.publisher.countryEUApt_BR
dc.publisherMolecular Visionpt_BR
dc.date.issued2011pt_BR
dc.date.monthofcirculationAUG 16pt_BR
dc.identifier.citationMolecular Vision. Molecular Vision, v. 17, n. 238-39, n. 2207, n. 2211, 2011.pt_BR
dc.language.isoenpt_BR
dc.description.volume17pt_BR
dc.description.issuenumber238-39pt_BR
dc.description.firstpage2207pt_BR
dc.description.lastpage2211pt_BR
dc.rightsfechadopt_BR
dc.sourceWeb of Sciencept_BR
dc.identifier.issn1090-0535pt_BR
dc.identifier.wosidWOS:000293885000002pt_BR
dc.date.available2014-07-30T14:48:46Z
dc.date.available2015-11-26T17:41:33Z-
dc.date.accessioned2014-07-30T14:48:46Z
dc.date.accessioned2015-11-26T17:41:33Z-
dc.description.provenanceMade available in DSpace on 2014-07-30T14:48:46Z (GMT). No. of bitstreams: 0 Previous issue date: 2011en
dc.description.provenanceMade available in DSpace on 2015-11-26T17:41:33Z (GMT). No. of bitstreams: 2 WOS000293885000002.pdf: 1126801 bytes, checksum: 95b0af527936cdf89eba066b440524a7 (MD5) WOS000293885000002.pdf.txt: 21126 bytes, checksum: f95983217be0607f0d5efdc057302f36 (MD5) Previous issue date: 2011en
dc.identifier.urihttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/62146
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/62146-
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