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Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions
Design: Setting up CSGE analysis for the FBN1 gene and testing the method first by screening coded samples from 17 MFS patients with previously detected FBN1 mutations. We then used a test set consisting of 46 coded samples representing MFS, related phenotypes, and controls. Results: Sixteen of the...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2002
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734965/ https://ncbi.nlm.nih.gov/pubmed/11826022 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.39.1.34 |
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