Associated Papers
Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review.
Cheng P et al.
Frontiers in Pediatrics, 2026
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index
Elastin-driven genetic diseases.
Duque Lasio ML et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2018
Domains 16 and 17 of tropoelastin in elastic fibre formation.
Wachi H et al.
The Biochemical Journal, 2007
Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis.
Tassabehji M et al.
Methods in Molecular Medicine, 2006
Biased exon/intron distribution of cryptic and de novo 3' splice sites.
Královicová J et al.
Nucleic Acids Research, 2005
Elastin: mutational spectrum in supravalvular aortic stenosis.
Metcalfe K et al.
European Journal of Human Genetics : Ejhg, 2000
Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.
Li DY et al.
Human Molecular Genetics, 1997
[Supravalvular aortic stenosis. Autosomal dominant form of congenital cardiopathy].
Pierquin G et al.
Journal De Genetique Humaine, 1988
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