A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred
dc.contributor.author | Clarke, | en_US |
dc.contributor.author | Honey, | en_US |
dc.contributor.author | Bekker, | en_US |
dc.contributor.author | Snyman, | en_US |
dc.contributor.author | Raymond, | en_US |
dc.contributor.author | Lord, | en_US |
dc.contributor.author | Brophy, | en_US |
dc.date.accessioned | 2010-04-01T15:21:42Z | |
dc.date.available | 2010-04-01T15:21:42Z | |
dc.date.issued | 2006-07 | en_US |
dc.identifier.citation | Clarke, ; 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.issn | 0009-9163 | en_US |
dc.identifier.issn | 1399-0004 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/65837 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=16813606&dopt=citation | en_US |
dc.format.extent | 211992 bytes | |
dc.format.extent | 3110 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Blackwell Publishing Ltd | en_US |
dc.rights | 2006 The Authors Journal compilation | en_US |
dc.subject.other | Afrikaner | en_US |
dc.subject.other | Branchio-oto-Renal (BOR) Syndrome | en_US |
dc.subject.other | Branchiootic (BO) Syndrome | en_US |
dc.subject.other | Congenital Anomalies | en_US |
dc.subject.other | EYA1 | en_US |
dc.subject.other | Hearing Loss | en_US |
dc.subject.other | Kidney Development | en_US |
dc.subject.other | Potter's Syndrome | en_US |
dc.subject.other | Renal Adysplasia | en_US |
dc.title | A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationother | Department of Genetics | en_US |
dc.contributor.affiliationother | Department of Anatomical Pathology, University of Pretoria, Pretoria, South Africa | en_US |
dc.contributor.affiliationother | Department of Obstetrics and Gynaecology, University of Pretoria and Kalafong Hospital, Pretoria, South Africa | en_US |
dc.identifier.pmid | 16813606 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/65837/1/j.1399-0004.2006.00642.x.pdf | |
dc.identifier.doi | 10.1111/j.1399-0004.2006.00642.x | en_US |
dc.identifier.source | Clinical Genetics | en_US |
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dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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