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Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome
BACKGROUND: Pathogenic mutations in FBN1, encoding the glycoprotein, fibrillin-1, cause Marfan syndrome (MFS) and related connective tissue disorders. In the present study, qualitative and quantitative effects of 16 mutations, identified in FBN1 in MFS patients with systematically described phenotyp...
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| Publicado no: | BMC Med Genet |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4683784/ https://ncbi.nlm.nih.gov/pubmed/26684006 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0260-4 |
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