Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.

To examine the associations among fibrillin gene mutations, protein function, and Marfan syndrome phenotype, we screened for alterations in the fibrillin coding sequence in patients with a range of manifestations and clinical severity. A cysteine to serine substitution at codon 1409 (C1409S) was ide...

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Detalhes bibliográficos

Publicado no:	J Clin Invest
Principais autores:	Dietz, H C, Pyeritz, R E, Puffenberger, E G, Kendzior, R J, Corson, G M, Maslen, C L, Sakai, L Y, Francomano, C A, Cutting, G R
Formato:	Artigo
Idioma:	Inglês
Publicado em:	American Society for Clinical Investigation 1992
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC443046/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1569206/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115766
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