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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| Publicado no: | BMC Med Genet |
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| Principais autores: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2001
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC59835/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11710961/ https://ncbi.nlm.nih.govhttps://doi.org/10.1186/1471-2350-2-11 |
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