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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4683784/ https://www.ncbi.nlm.nih.gov/pubmed/26684006 http://dx.doi.org/10.1186/s12881-015-0260-4 |