Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01287.x/fullpdf
Reference32 articles.
1. Location on chromosome 15 of the gene defect causing Marfan syndrome;Kainulainen;N Engl J Med,1990
2. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders;Dietz;Hum Mol Genet,1995
3. Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1.;Magenis;Genomics,1991
4. Marfan's syndrome;Ho;Lancet,2005
5. Revised diagnostic criteria for the Marfan syndrome;De Paepe;Am J Med Genet,1996
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