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A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred

dc.contributor.authorClarke,en_US
dc.contributor.authorHoney,en_US
dc.contributor.authorBekker,en_US
dc.contributor.authorSnyman,en_US
dc.contributor.authorRaymond,en_US
dc.contributor.authorLord,en_US
dc.contributor.authorBrophy,en_US
dc.date.accessioned2010-04-01T15:21:42Z
dc.date.available2010-04-01T15:21:42Z
dc.date.issued2006-07en_US
dc.identifier.citationClarke, ; Honey, ; Bekker, ; Snyman, ; Raymond, ; Lord, ; Brophy, (2006). "A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred." Clinical Genetics 70(1): 63-67. <http://hdl.handle.net/2027.42/65837>en_US
dc.identifier.issn0009-9163en_US
dc.identifier.issn1399-0004en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/65837
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=16813606&dopt=citationen_US
dc.format.extent211992 bytes
dc.format.extent3110 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.publisherBlackwell Publishing Ltden_US
dc.rights2006 The Authors Journal compilationen_US
dc.subject.otherAfrikaneren_US
dc.subject.otherBranchio-oto-Renal (BOR) Syndromeen_US
dc.subject.otherBranchiootic (BO) Syndromeen_US
dc.subject.otherCongenital Anomaliesen_US
dc.subject.otherEYA1en_US
dc.subject.otherHearing Lossen_US
dc.subject.otherKidney Developmenten_US
dc.subject.otherPotter's Syndromeen_US
dc.subject.otherRenal Adysplasiaen_US
dc.titleA novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindreden_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelGeneticsen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI, USAen_US
dc.contributor.affiliationotherDepartment of Geneticsen_US
dc.contributor.affiliationotherDepartment of Anatomical Pathology, University of Pretoria, Pretoria, South Africaen_US
dc.contributor.affiliationotherDepartment of Obstetrics and Gynaecology, University of Pretoria and Kalafong Hospital, Pretoria, South Africaen_US
dc.identifier.pmid16813606en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/65837/1/j.1399-0004.2006.00642.x.pdf
dc.identifier.doi10.1111/j.1399-0004.2006.00642.xen_US
dc.identifier.sourceClinical Geneticsen_US
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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