Associated Papers
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
Mannucci L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.
Baudhuin LM et al.
Journal of Human Genetics, 2015
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
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