Novel De Novo Nonsense Mutation of FBN1 Gene in a Patient with Marfan Syndrome

Overview

Journal J Genet

Specialty Genetics

Date 2012 Sep 4

PMID 22942097

Citations 4

Authors

Young-Hwa Song

Gu-Hwan Kim

Han-Wook Yoo

June-Bum Kim

Affiliations

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References

Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E . Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. Hum Mutat. 2005; 26(5):494. DOI: 10.1002/humu.9377. View

Judge D, Dietz H . Marfan's syndrome. Lancet. 2005; 366(9501):1965-76. PMC: 1513064. DOI: 10.1016/S0140-6736(05)67789-6. View

Faivre L, Collod-Beroud G, Child A, Callewaert B, Loeys B, Binquet C . Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. J Med Genet. 2008; 45(6):384-90. DOI: 10.1136/jmg.2007.056382. View

De Paepe A, Devereux R, Dietz H, Hennekam R, Pyeritz R . Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996; 62(4):417-26. DOI: 10.1002/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R. View