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Multi-exon deletions of the FBN1 gene in Marfan syndrome

BACKGROUND: Mutations in the fibrillin -1 gene (FBN1) cause Marfan syndrome (MFS), an autosomal dominant multi-system connective tissue disorder. The 200 different mutations reported in the 235 kb, 65 exon-containing gene include only one family with a genomic multi-exon deletion. METHODS: We used l...

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Detalhes bibliográficos
Main Authors: Liu, Wanguo, Schrijver, Iris, Brenn, Thomas, Furthmayr, Heinz, Francke, Uta
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2001
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC59835/
https://ncbi.nlm.nih.gov/pubmed/11710961
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-2-11
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