1Dietz HC,Cutting GR,Pyeritz RE,et al.Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.Nature,1991,352:337-339.
2Pereira L,Levran O,Ramirez F,et al.A molecular approach to the stratification of cardiovascular risk in families with Marfan syndrome.N Engl J Med,1994,331:148-153.
3Boileau C,Jondeau G,Mizuguchi T.Molecular genetics of Marfan syndrome.Curr Opin Cardiol,2005,20:194-200.
4Schrijver I,Liu W,Brenn T,et al.Cysteine Substitutions in Epidermal Growth Factor-Like Domains of Fibrillin-1:Distinct Effects on Biochemical and Clinical Phenotypes.Am J Hum.Genet,1999,65:1007-1020.
5Kielty CM,Sherratt MJ,Marson A,et al.Fibrillin microfibrils.Adv Protein Chem,2005,70:405-36.
6Singleton AC,Mitchell AL,Byers PH,et al.Bovine model of Marfan syndrome results from an amino acid change (c.3598G 》 A,p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1.Hum Mutat,2005,25:348-52.
7Gigante A,Chillemi C,Quaglino D,et al.DL-penicillamine induced alteration of elastic fibers of periosteum-perichondrium and associated growth inhibition:an experimental study.J Orthop Res,2001,19:398-404.
8Kahryaman S,Karlikaya G,Sertyel S,et al.Clinical aspects of preimplantation genetic diagnosis for single gene disorders combined with HLA typing.Reprod Biomed Online,2004,9:529-532.
9Vincent GM,Pyeritz RE,Splawski I,et al.Role of DNA testing for diagnosis,management,and genetic screening in long QT syndrome,hypertrophic cardiomyopathy,and Marfan syndrome.Heart,2001,86:12-14.
10Nollen GJ,Mulder BJ.What is new in the Marfan syndrome? Int J Cardiol,2004,97 Suppl 1:103-108.
