ELN wt Allele

Known as: FLJ38671, Elastin (Supravalvular Aortic Stenosis, Williams-Beuren Syndrome) wt Allele, FLJ43523 
Human ELN wild-type allele is located in the vicinity of 7q11.23 and is approximately 42 kb in length. This allele, which encodes elastin protein… Expand
National Institutes of Health

Papers overview

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2015
2015
ObjectiveSupravalvar aortic stenosis (SVAS) is an uncommon congenital cardiac anomaly characterized by varying degrees of left… Expand
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Review
2014
Review
2014
The main components of elastic fibers, elastin and fibrillin-containing microfibrils play a structural and mechanical role in the… Expand
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2013
2013
Sinus of Valsalva aneurysms (SVAs) are rare congenital entities arising from eccentric aortic root dilatation that can protrude… Expand
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Highly Cited
2011
Highly Cited
2011
Human retrotransposons generate structural variation and genomic diversity through ongoing retrotransposition and non-allelic… Expand
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2007
2007
Naturally occurring mutations are useful in identifying domains that are important for protein function. We studied a mutation in… Expand
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Review
2000
Review
2000
S aortic stenosis (SVAS) may occur as part of Williams’ syndrome, with autosomal dominant inheritance or sporadically.1–3… Expand
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Review
1981
Review
1981
A 42-year-old symptomatic woman with possible adult Williams's syndrome (mental retardation, 'elfin facies' and supravalvular… Expand
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