Arnaud, Pauline <br/><br/>
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.  [electronic resource] 

 -  Journal of medical genetics  02 2017 
 - 100-103 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2016-103996  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Codon, Nonsense<br/>Female<br/>Fibrillin-1--genetics<br/>Genetic Predisposition to Disease<br/>Genetic Testing<br/>Heterozygote<br/>Homozygote<br/>Humans<br/>Male<br/>Marfan Syndrome--diagnosis<br/>Mutation, Missense--genetics<br/>Pathology, Molecular<br/>Pedigree