Domains 16 and 17 of tropoelastin in elastic fibre formation

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 th...

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Bibliografiske detaljer
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Portland Press Ltd. 2007
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1783983/
https://ncbi.nlm.nih.gov/pubmed/17037986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20061145
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