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A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing

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dc.contributor.authorConstantinou, Panayiotis
dc.contributor.authorLochhead, Paul
dc.contributor.authorD'Allesandro, Mariella
dc.contributor.authorSamant, Shalaka
dc.contributor.authorDeciphering Developmental Disorders Study
dc.contributor.authorDean, John
dc.contributor.authorHauptfleisch, Catherine
dc.contributor.institutionUniversity of Aberdeen.Applied Medicineen
dc.contributor.institutionUniversity of Aberdeen.Other Applied Health Sciencesen
dc.date.accessioned2016-12-07T14:28:21Z
dc.date.available2016-12-07T14:28:21Z
dc.date.issued2015
dc.descriptionThe Deciphering Developmental Disorders Study presents independent research commissioned by the Health Innovation Challenge Fund (HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (WT098051). The views expressed in this publication are those of the author(s) and not necessarily those of the Wellcome Trust or the Department of Health. The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network.en
dc.description.statusPeer revieweden
dc.format.extent5
dc.format.extent444280
dc.identifier71235100
dc.identifierfd30554c-00b7-4c08-b856-301f3c1bac43
dc.identifier84958170118
dc.identifier.citationConstantinou, P, Lochhead, P, D'Allesandro, M, Samant, S, Deciphering Developmental Disorders Study, Dean, J & Hauptfleisch, C 2015, 'A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing', Molecular Syndromology, vol. 6, pp. 254-258 . https://doi.org/10.1159/000441134en
dc.identifier.doi10.1159/000441134
dc.identifier.urihttp://hdl.handle.net/2164/7833
dc.identifier.vol6en
dc.language.isoeng
dc.relation.ispartofMolecular Syndromologyen
dc.subjectCobalamin F disorderen
dc.subjectLMBRD1 mutationen
dc.subjectQH426 Geneticsen
dc.subjectR Medicineen
dc.subjectGeneral Biochemistry,Genetics and Molecular Biologyen
dc.subjectGeneral Medicineen
dc.subjectWellcome Trusten
dc.subjectHealth Innovation Challenge Fund (HICF-1009-003)en
dc.subject.lccQH426en
dc.subject.lccRen
dc.titleA New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencingen
dc.typeJournal articleen

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