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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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Autori principali: Korkko, J, Kaitila, I, Lonnqvist, L, Peltonen, L, Ala-Kokko, L
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2002
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Accesso online: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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