ABCC6 p.Arg1273Lys
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PMID: 16086762
[PubMed]
Meyer S et al: "Elastosis perforans serpiginosa-like pseudoxanthoma elasticum in a child with severe Moya Moya disease."
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However, two novel allelic amino acid substitutions (Arg1273Lys and Glu1293Lys; exon 27) were found in the girl and her father, localized in close proximity to the region that codes for the functionally critical second nucleotide-binding fold of ABCC6.
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ABCC6 p.Arg1273Lys 16086762:7:53
status: NEW51 These comprise three adjacent amino acid substitutions in exon 27 (Arg1268Gln, Arg1273Lys and Glu1293Lys) and a single Arg1418Gln exchange in exon 30 (Fig.
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ABCC6 p.Arg1273Lys 16086762:51:79
status: NEW53 The Arg1268Gln substitution, which results from a G fi A nucleotide exchange in position 3803, was found in both the index patient and her healthy father. This substitution has previously been suggested to be causatively linked to PXE,9 but was later recognized as a common polymorphism with significant allelic frequency.10 In contrast, the Arg1273Lys and Glu1293Lys substitutions in exon 27 are new and have not previously been reported.
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ABCC6 p.Arg1273Lys 16086762:53:342
status: NEW72 Novel amino acid substitutions of the ABCC6 gene (Arg1273Lys and Glu1293Lys) in exon 27 were found in the proposita and her father.
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ABCC6 p.Arg1273Lys 16086762:72:50
status: NEW