ABCC6 p.Leu826Pro
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PMID: 18253096
[PubMed]
Plomp AS et al: "ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones."
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Sentence
Comment
6
Results: Eight novel ABCC6 mutations (c.1685T>C, p.Met562Thr; c.2477T>C, p.Leu826Pro; c.2891G>C, p.Arg964Pro; c.3207C>A, p.Tyr1069X; c.3364delT, p.Ser1122fs; c.3717T>G, p.Tyr1293X; c.3871G>A, p.Ala1291Thr; c. 4306_4312del, p.Thr1436fs) were found in seven unrelated patients.
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ABCC6 p.Leu826Pro 18253096:6:75
status: NEW67 In case 2, we found the previously reported pathogenic sequence change, c.2787+1G>T, in intron 21 of ABCC6 [25, 26] and the novel mutation, c.2477T>C (p.Leu826Pro), in exon 19.
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ABCC6 p.Leu826Pro 18253096:67:153
status: NEW115 DISCUSSION In this study, eight novel mutations were found, which we consider to be implicated in PXE: c.1685T>C (p.Met562Thr), c.2477T>C (p.Leu826Pro), c.2891G>C (p.Arg964Pro), c.
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ABCC6 p.Leu826Pro 18253096:115:141
status: NEW