The molecular genetics of Marfan syndrome and related disorders

Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the gene for fibrillin‐1 (FBN1). The leading cause of premature death in untreated indiv...

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Detalhes bibliográficos
Main Authors: Robinson, P N, Arteaga‐Solis, E, Baldock, C, Collod‐Béroud, G, Booms, P, De Paepe, A, Dietz, H C, Guo, G, Handford, P A, Judge, D P, Kielty, C M, Loeys, B, Milewicz, D M, Ney, A, Ramirez, F, Reinhardt, D P, Tiedemann, K, Whiteman, P, Godfrey, M
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
Assuntos:
Review
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563177/
https://ncbi.nlm.nih.gov/pubmed/16571647
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.039669
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