Marfan syndrome in South Africa – a molecular genetic approach to diagnosis
dc.contributor.author | Child, A | |
dc.contributor.author | Comeglio, P | |
dc.contributor.author | Arno, G | |
dc.contributor.author | Beighton, P | |
dc.date.accessioned | 2017-07-07T09:23:19Z | |
dc.date.available | 2017-07-07T09:23:19Z | |
dc.date.issued | 2007 | |
dc.date.updated | 2016-01-12T09:10:49Z | |
dc.description.abstract | 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. | |
dc.identifier.apacitation | Child, 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/11427/24708 | en_ZA |
dc.identifier.chicagocitation | Child, 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/11427/24708 | en_ZA |
dc.identifier.citation | Child, 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.uri | http://hdl.handle.net/11427/24708 | |
dc.identifier.vancouvercitation | Child 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.iso | eng | |
dc.publisher.department | Department of Medicine | en_ZA |
dc.publisher.faculty | Faculty of Health Sciences | en_ZA |
dc.publisher.institution | University of Cape Town | |
dc.source | South African Medical Journal | |
dc.source.uri | http://www.samj.org.za/index.php/samj | |
dc.title | Marfan syndrome in South Africa – a molecular genetic approach to diagnosis | |
dc.type | Journal Article | en_ZA |
uct.type.filetype | Text | |
uct.type.filetype | Image | |
uct.type.publication | Research | en_ZA |
uct.type.resource | Article | en_ZA |