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dc.contributor.authorKilinc, MO
dc.contributor.authorNinis, VN
dc.contributor.authorUgur, SA
dc.contributor.authorTuysuz, B
dc.contributor.authorSeven, M
dc.contributor.authorBalci, S
dc.contributor.authorGoodship, J
dc.contributor.authorTolun, A
dc.date.accessioned2019-12-10T10:39:18Z
dc.date.available2019-12-10T10:39:18Z
dc.date.issued2003
dc.identifier.issn1018-4813
dc.identifier.urihttps://doi.org/10.1038/sj.ejhg.5201057
dc.identifier.urihttp://hdl.handle.net/11655/14112
dc.description.abstractSeckel syndrome (SCKL) is a rare disease with wide phenotypic heterogeneity. A locus (SCKL1) has been identified at 3q and another (SCKL2) at 18p, both in single kindreds afflicted with the syndrome. We report here a novel locus (SCKL3) at 14q by linkage analysis in 13 Turkish families. In total, 18 affected and 10 unaffected sibs were included in the study. Of the 10 informative families, nine with parental consanguinity and one reportedly nonconsanguineous but with two affected sibs, five were indicative of linkage to the novel locus. One of those families also linked to the SCKL1 locus. A consanguineous family with one affected sib was indicative of linkage to SCKL2. The novel gene locus SCKL3 is 1.18 cM and harbors menage a trois 1, a gene with a role in DNA repair.
dc.language.isoen
dc.publisherNature Publishing Group
dc.relation.isversionof10.1038/sj.ejhg.5201057
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectBiochemistry & Molecular Biology
dc.subjectGenetics & Heredity
dc.titleIs the Novel Sckl3 at 14Q23 the Predominant Seckel Locus?
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalEuropean Journal Of Human Genetics
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları
dc.identifier.volume11
dc.identifier.issue11
dc.identifier.startpage851
dc.identifier.endpage857
dc.description.indexWoS


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