Homozygous and compound heterozygous mutations in theFBN1gene: unexpected findings in molecular diagnosis of Marfan syndrome-Reference-Cited by-同舟云学术

Homozygous and compound heterozygous mutations in theFBN1gene: unexpected findings in molecular diagnosis of Marfan syndrome

Published:2016-08-31 Issue:2 Volume:54 Page:100-103
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Arnaud Pauline,Hanna Nadine,Aubart Mélodie,Leheup Bruno,Dupuis-Girod Sophie,Naudion Sophie,Lacombe Didier,Milleron Olivier,Odent Sylvie,Faivre Laurence,Bal Laurence,Edouard Thomas,Collod-Beroud Gwenaëlle,Langeois Maud,Spentchian Myrtille,Gouya Laurent,Jondeau Guillaume,Boileau Catherine

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference23 articles.

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3. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database;Collod-Béroud;Hum Mutat,2003

4. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study;Faivre;Am J Hum Genet,2007

5. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene;Dietz;Nature,1991

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