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. Author manuscript; available in PMC: 2020 Oct 30.
Published in final edited form as: Am J Med Genet A. 2014 Mar 24;164A(5):1341–1345. doi: 10.1002/ajmg.a.36449

FIG. 1.

FIG. 1.

Chromatograms from our Patients with progeroid fibrillinopathy. A: Electropherogram for normal sequence of a part of exon 65 of FBN1 and B: the sequence from Patient 1 showing heterozygous c.8206_8027insA mutation. C: Normal sequence electropherogram of a part of exon 65 of FBN1 and D: the sequence from Patient 2 showing heterozygous c.8222T>C and heterozygous c.8226+1G>T mutations. The amino acid substitution is shown below the electropherogram. E: Data from whole exome sequencing of Patient 2 in the region of exon 65 of FBN1 showing that both the heterozygous variants c.8222T>C and c.8226+1G>T are on the same allele.