Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/6944
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dc.contributor.authorShaw, M.en
dc.contributor.authorGecz, J.en
dc.contributor.authorMcDonough, B.en
dc.contributor.authorHodess, A.en
dc.contributor.authorHarter, D.en
dc.date.issued2004en
dc.identifier.citationAmerican Journal of Medical Genetics. Part A, 2004; 129(2):206-207en
dc.identifier.issn1552-4825en
dc.identifier.issn1552-4833en
dc.identifier.urihttp://hdl.handle.net/2440/6944-
dc.language.isoenen
dc.publisherWiley-Lissen
dc.subjectHumans; Osteochondrodysplasias; Optic Atrophy, Hereditary, Leber; Abnormalities, Multiple; Membrane Transport Proteins; Transcription Factors; DNA, Mitochondrial; Pedigree; Sequence Analysis, DNA; Base Sequence; Mutation, Missense; Maleen
dc.titleIdentification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasiaen
dc.typeJournal articleen
dc.identifier.rmid0020042495en
dc.identifier.doi10.1002/ajmg.a.30161en
dc.identifier.pubid55500-
pubs.library.collectionPaediatrics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidShaw, M. [0000-0002-5060-190X]en
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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