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Rapid Identification of Disease-Causing Mutations Using Copy Number Analysis within Linkage Intervals

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dc.authorscopusid16232374100
dc.authorscopusid9037414300
dc.authorscopusid7202125538
dc.authorscopusid6602617725
dc.authorscopusid23059360600
dc.authorscopusid23060045400
dc.authorscopusid6603734659
dc.contributor.authorBayrakli, F.
dc.contributor.authorBilgüvar, K.
dc.contributor.authorMason, C.E.
dc.contributor.authorDiLuna, M.L.
dc.contributor.authorBayri, Y.
dc.contributor.authorGüngör, L.
dc.contributor.authorTerzi, M.
dc.date.accessioned2020-06-21T15:18:21Z
dc.date.available2020-06-21T15:18:21Z
dc.date.issued2007
dc.departmentOndokuz Mayıs Üniversitesien_US
dc.department-temp[Bayrakli] Fatih, Department of Psychiatry and Neurosurgery, Yale School of Medicine, New Haven, CT, United States, Department of Neurobiology, Yale School of Medicine, New Haven, CT, United States; [Bilgüvar] Kaya, Department of Psychiatry and Neurosurgery, Yale School of Medicine, New Haven, CT, United States, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, United States; [Mason] Christopher E., Program on Neurogenetics, Yale School of Medicine, New Haven, CT, United States, Department of Genetics, Yale School of Medicine, New Haven, CT, United States; [DiLuna] Michael L., Department of Psychiatry and Neurosurgery, Yale School of Medicine, New Haven, CT, United States, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, United States; [Bayri] Yasar, Department of Psychiatry and Neurosurgery, Yale School of Medicine, New Haven, CT, United States, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, United States; [Güngör] Levent, Department of Neurology, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Terzi] Murat, Department of Neurology, Ondokuz Mayis Üniversitesi, Samsun, Turkey; [Mane] Shrikant M., W. M. Keck Facility, Yale University, New Haven, CT, United States; [Lifton] Richard P., Department of Genetics, Yale School of Medicine, New Haven, CT, United States, Yale School of Medicine, New Haven, CT, United States; [State] Matthew W., Program on Neurogenetics, Yale School of Medicine, New Haven, CT, United States, Yale Child Study Center, New Haven, CT, United States, Department of Genetics, Yale School of Medicine, New Haven, CT, United States; [Günel] Murat, Department of Psychiatry and Neurosurgery, Yale School of Medicine, New Haven, CT, United States, Department of Neurobiology, Yale School of Medicine, New Haven, CT, United States, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, United States, Department of Neurosurgery, Yale School of Medicine, New Haven, CT, United Statesen_US
dc.description.abstractSNP and comparative genome hybridization arrays (aCGH) are powerful techniques for identifying genome rearrangements, deletions, and duplications. We hypothesized that current array-based detection of copy number variation (CNV) could complement parametric linkage analysis and allow the rapid identification of functional mutations in families with inherited disorders. Herein, we demonstrate the utility of this technique by rapidly identifying a disease causing microdeletion within the PARK2 gene in a family with autosomal recessive Parkinsonism. © 2007 Wiley-Liss, Inc.en_US
dc.identifier.doi10.1002/humu.20592
dc.identifier.endpage1240en_US
dc.identifier.issn1059-7794
dc.identifier.issn1098-1004
dc.identifier.issue12en_US
dc.identifier.pmid17676595
dc.identifier.scopus2-s2.0-37049039505
dc.identifier.scopusqualityQ1
dc.identifier.startpage1236en_US
dc.identifier.urihttps://doi.org/10.1002/humu.20592
dc.identifier.volume28en_US
dc.identifier.wosWOS:000251534700011
dc.identifier.wosqualityQ2
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofHuman Mutationen_US
dc.relation.journalHuman Mutationen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectArrayen_US
dc.subjectCGHen_US
dc.subjectCNVen_US
dc.subjectDeletionen_US
dc.subjectMutationen_US
dc.subjectPARK2en_US
dc.subjectParkinen_US
dc.titleRapid Identification of Disease-Causing Mutations Using Copy Number Analysis within Linkage Intervalsen_US
dc.typeArticleen_US
dspace.entity.typePublication

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