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  3. School of Paediatrics & Reproductive Health
  4. Paediatrics
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Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/6944
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dc.contributor.authorShaw, M.-
dc.contributor.authorGecz, J.-
dc.contributor.authorMcDonough, B.-
dc.contributor.authorHodess, A.-
dc.contributor.authorHarter, D.-
dc.date.issued2004-
dc.identifier.citationAmerican Journal of Medical Genetics Part A, 2004; 129(2):206-207-
dc.identifier.issn1552-4825-
dc.identifier.issn1552-4833-
dc.identifier.urihttp://hdl.handle.net/2440/6944-
dc.language.isoen-
dc.publisherWiley-Liss-
dc.source.urihttp://dx.doi.org/10.1002/ajmg.a.30161-
dc.subjectHumans-
dc.subjectOsteochondrodysplasias-
dc.subjectOptic Atrophy, Hereditary, Leber-
dc.subjectAbnormalities, Multiple-
dc.subjectMembrane Transport Proteins-
dc.subjectTranscription Factors-
dc.subjectDNA, Mitochondrial-
dc.subjectPedigree-
dc.subjectSequence Analysis, DNA-
dc.subjectBase Sequence-
dc.subjectMutation, Missense-
dc.subjectMale-
dc.titleIdentification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia-
dc.typeJournal article-
dc.identifier.doi10.1002/ajmg.a.30161-
pubs.publication-statusPublished-
dc.identifier.orcidShaw, M. [0000-0002-5060-190X]-
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]-
Appears in Collections:Aurora harvest
Paediatrics publications

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