Article
Domains 16 and 17 of tropoelastin in elastic fibre formation.
The Biochemical journal - 15 Feb 2007
Wachi Hiroshi, Sato Fumiaki, Nakazawa Junji, Nonaka Risa, Szabo Zoltan, Urban Zsolt, Yasunaga Takuo, Maeda Iori, Okamoto Koji, Starcher Barry C, Li Dean Y, Mecham Robert P, Seyama Yoshiyuki
Abstract excerpt
Naturally occurring mutations are useful in identifying domains that are important for protein function. We studied a mutation in the elastin gene, 800-3G>C, a common disease allele for SVAS (supravalvular aortic stenosis). We showed in primary skin fibroblasts from two different SVAS families that this mutation causes skipping of exons 16-17 and results in a stable mRNA. Tropoelastin lacking domains 16-17...
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