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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement

Fig. 1

Summary of the genetic testing steps. Genetic screening steps for two sets of patients. We started the genetic testing with sequencing the FBN1 gene. The negative samples were further investigated with MLPA technique. We applied an NGS gene panel for the samples with repeated negative results. We applied the gene panel followed by MLPA for the second set of patients. The two phases of the study are indicated

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