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Case Reports
. 2012 Aug;91(2):233-5.
doi: 10.1007/s12041-012-0165-3.

Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome

Young-Hwa Song  1 , Gu-Hwan Kim, Han-Wook Yoo, June-Bum Kim
Affiliations
Case Reports

Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome

Young-Hwa Song et al. J Genet. 2012 Aug.
No abstract available

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References

    1. Hum Mutat. 2005 Nov;26(5):494 - PubMed
    1. Lancet. 2005 Dec 3;366(9501):1965-76 - PubMed
    1. J Med Genet. 2008 Jun;45(6):384-90 - PubMed
    1. Am J Med Genet. 1996 Apr 24;62(4):417-26 - PubMed

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