Associated Papers
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.
Magyar I et al.
Human Mutation, 2009
A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations.
Baumgartner C et al.
Journal of Biomedical Informatics, 2006
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