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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections

Fig. 1

The pedigree and detection of mutations in AD2002. A The pedigree of AD2002 showed that his healthy father (I:1) did not carry mutations, and his mother (I:2) and sister (II:2) were both heterozygous for an LTBP3 variant, c.1965del (p.Arg656Alafs*6), and did not show abnormal clinical characteristics. His healthy twin sons (III:1, III:2) both harbored the heterozygous variant c.625dup (p.Leu209Profs*38). B Chromatograms of Sanger sequencing of AD2002 and his family members. The mutations were all verified by Sanger sequencing

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