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1995 | 1 |
1996 | 1 |
2003 | 1 |
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Page 1
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
Am J Hum Genet. 1995 Jul;57(1):8-21.
Am J Hum Genet. 1995.
PMID: 7611299
Free PMC article.
Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome.
Liu W, Qian C, Comeau K, Brenn T, Furthmayr H, Francke U.
Liu W, et al.
Hum Mol Genet. 1996 Oct;5(10):1581-7. doi: 10.1093/hmg/5.10.1581.
Hum Mol Genet. 1996.
PMID: 8894692
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Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
Collod-Béroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, Béroud C, Boileau C.
Collod-Béroud G, et al.
Hum Mutat. 2003 Sep;22(3):199-208. doi: 10.1002/humu.10249.
Hum Mutat. 2003.
PMID: 12938084
Review.
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