Marfan syndrome in South Africa – a molecular genetic approach to diagnosis

dc.contributor.authorChild, A
dc.contributor.authorComeglio, P
dc.contributor.authorArno, G
dc.contributor.authorBeighton, P
dc.date.accessioned2017-07-07T09:23:19Z
dc.date.available2017-07-07T09:23:19Z
dc.date.issued2007
dc.date.updated2016-01-12T09:10:49Z
dc.description.abstractMarfan syndrome (MFS) (MIM 154700) is a heritable disorder of connective tissue characterised by excessive height and limb length disproportion, together with ocular, cardiovascular and skeletal manifestations. The condition is an autosomal dominant trait, and can be transmitted from generation to generation with variable severity. The determinant gene FBN1 is situated at the chromosomal locus 15q21.1 and codes for the protein fibrillin-1.
dc.identifier.apacitationChild, A., Comeglio, P., Arno, G., & Beighton, P. (2007). Marfan syndrome in South Africa – a molecular genetic approach to diagnosis. <i>South African Medical Journal</i>, http://hdl.handle.net/11427/24708en_ZA
dc.identifier.chicagocitationChild, A, P Comeglio, G Arno, and P Beighton "Marfan syndrome in South Africa – a molecular genetic approach to diagnosis." <i>South African Medical Journal</i> (2007) http://hdl.handle.net/11427/24708en_ZA
dc.identifier.citationChild, A., Comeglio, P., Arno, G., & Beighton, P. (2007). Marfan syndrome in South Africa-a molecular genetic approach to diagnosis: scientific letter. South African Medical Journal, 97(9), 845-847.
dc.identifier.ris TY - Journal Article AU - Child, A AU - Comeglio, P AU - Arno, G AU - Beighton, P AB - Marfan syndrome (MFS) (MIM 154700) is a heritable disorder of connective tissue characterised by excessive height and limb length disproportion, together with ocular, cardiovascular and skeletal manifestations. The condition is an autosomal dominant trait, and can be transmitted from generation to generation with variable severity. The determinant gene FBN1 is situated at the chromosomal locus 15q21.1 and codes for the protein fibrillin-1. DA - 2007 DB - OpenUCT DP - University of Cape Town J1 - South African Medical Journal LK - https://open.uct.ac.za PB - University of Cape Town PY - 2007 T1 - Marfan syndrome in South Africa – a molecular genetic approach to diagnosis TI - Marfan syndrome in South Africa – a molecular genetic approach to diagnosis UR - http://hdl.handle.net/11427/24708 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/24708
dc.identifier.vancouvercitationChild A, Comeglio P, Arno G, Beighton P. Marfan syndrome in South Africa – a molecular genetic approach to diagnosis. South African Medical Journal. 2007; http://hdl.handle.net/11427/24708.en_ZA
dc.language.isoeng
dc.publisher.departmentDepartment of Medicineen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.sourceSouth African Medical Journal
dc.source.urihttp://www.samj.org.za/index.php/samj
dc.titleMarfan syndrome in South Africa – a molecular genetic approach to diagnosis
dc.typeJournal Articleen_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceArticleen_ZA
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