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Localization of mutations in FBN1 and results from qualitative analysis. (a) Schematic presentation of FBN1 with the localization of the 3 mutations investigated in this study indicated. (b) Fragment of FBN1 cDNA sequence in a patient with c.4282 delC. (c) Fragment of FBN1 cDNA sequence in a patient with c.7_8insTC. (d) Fragment of FBN1 cDNA sequence in a patient with c.2192 delC.
