Associated Papers
Genotype-Phenotype Correlations, Treatment, and Prognosis of Children With Early-Onset (Neonatal) Marfan Syndrome.
van der Leest EC et al.
Clinical Genetics, 2025
40065510 (PubMed )
Supplement: CGE-108-134-s002.xlsx › Suppl_Table_6
FBN1 Splice-Altering Mutations in Marfan Syndrome: A Case Report and Literature Review.
Wang JJ et al.
Genes, 2022
Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.
Jensen SA et al.
Plos One, 2021
33735269 (PubMed )
Supplement: pone.0248532.s001.xlsx › S1_Table
Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
Desmet FO et al.
Nucleic Acids Research, 2009
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