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Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/7221
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dc.contributor.authorLower, K.-
dc.contributor.authorSolders, G.-
dc.contributor.authorBondeson, M.-
dc.contributor.authorNelson, J.-
dc.contributor.authorBrun, A.-
dc.contributor.authorCrawford, J.-
dc.contributor.authorMalm, G.-
dc.contributor.authorBorjeson, M.-
dc.contributor.authorTurner, G.-
dc.contributor.authorPartington, M.-
dc.contributor.authorGecz, J.-
dc.date.issued2004-
dc.identifier.citationEuropean Journal of Human Genetics, 2004; 12(10):787-789-
dc.identifier.issn1018-4813-
dc.identifier.issn1476-5438-
dc.identifier.urihttp://hdl.handle.net/2440/7221-
dc.description.statementofresponsibilityKaren M Lower, Göran Solders, Marie-Louise Bondeson, John Nelson, Arne Brun, Joanna Crawford, Gunilla Malm, Mats Börjeson, Gillian Turner, Michael Partington and Jozef Gécz-
dc.language.isoen-
dc.publisherNature Publishing Group-
dc.source.urihttp://dx.doi.org/10.1038/sj.ejhg.5201228-
dc.subjectHumans-
dc.subjectMental Retardation, X-Linked-
dc.subjectObesity-
dc.subjectHypogonadism-
dc.subjectSyndrome-
dc.subjectArginine-
dc.subjectPedigree-
dc.subjectPoint Mutation-
dc.subjectFemale-
dc.subjectMale-
dc.title1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family-
dc.title.alternative1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family-
dc.typeJournal article-
dc.identifier.doi10.1038/sj.ejhg.5201228-
pubs.publication-statusPublished-
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]-
Appears in Collections:Aurora harvest
Paediatrics publications

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