Pages that link to "Q24598717"
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The following pages link to Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis (Q24598717):
Displaying 15 items.
- Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome (Q34050951) (← links)
- Engineered zinc-finger proteins can compensate genetic haploinsufficiency by transcriptional activation of the wild-type allele: application to Willams-Beuren syndrome and supravalvular aortic stenosis (Q36401362) (← links)
- SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant (Q37298164) (← links)
- Genetic architecture of reciprocal CNVs (Q38112901) (← links)
- Genetics of Congenital Heart Disease: Past and Present (Q38997133) (← links)
- Single nucleotide polymorphisms and domain/splice variants modulate assembly and elastomeric properties of human elastin. Implications for tissue specificity and durability of elastic tissue (Q39082557) (← links)
- Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm (Q40422003) (← links)
- Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome (Q58437149) (← links)
- ELN gene triplication responsible for familial supravalvular aortic aneurysm (Q62870665) (← links)
- Elastic fibres in health and disease (Q87285382) (← links)
- Supravalvular aortic stenosis in adult with anomalies of aortic arch vessels and aortic regurgitation (Q87405963) (← links)
- Requirement for repetitive surgical approaches at supravalvular aortic stenosis (Q89823209) (← links)
- Novel ELN mutation in a Japanese family with a severe form of supravalvular aortic stenosis (Q90330490) (← links)
- Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association (Q90669133) (← links)
- TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis (Q93095702) (← links)