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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Detalles Bibliográficos
Autores principales: Liu, Wanguo, Schrijver, Iris, Brenn, Thomas, Furthmayr, Heinz, Francke, Uta
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2001
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC59835/
https://www.ncbi.nlm.nih.gov/pubmed/11710961
http://dx.doi.org/10.1186/1471-2350-2-11

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC59835/
https://www.ncbi.nlm.nih.gov/pubmed/11710961
http://dx.doi.org/10.1186/1471-2350-2-11

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