[1] Yang RQ,Jabbari J,Cheng XS,et al.New population based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome[J]BMC Genet,2014,15:74.
[2] Loeys BL,Dietz HC,Braverman AC,et al.The revised Ghent nosology for the Marfan syndrome[J].J Med Genet,2010,47(7):476-485.
[3] Körkkö J, Kaitila I, Lönnqvist L, et al.Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions[J].J Med Genet. 2002,39(1):34-41.
[4] JensenSA,Reinhardt DP,Gibson MA,et al.Protein interaction studies of MAGP-1 with tropoelastin and fibrillin-1[J].J Biol Chem,2001,276:39661-39666.
[5] Collod-Beroud G,Le Bourdelles S,Ades L.Update of the UMD-FBN1 mutation database and creation of an FBN1 poiymor-phism database[J].Hum Mutat,2003,22(49):199-208.
[6] Ades LC,Holman KJ,Brett MS,et al.Ectopia lentis phenotypes and FBN1 gene[J].Am J Med Genet,2004,126:284-289.
[7] 邓婷. 先天性晶状体脱位与FBN1基因[J].眼科研究,2008,26(2):157-160. |
