Associated Papers
Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.
Li J et al.
Molecular Genetics & Genomic Medicine, 2021
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
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
Khau Van Kien P et al.
Human Mutation, 2010
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