ABCC6 p.Asp718Gly
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PMID: 22624841
[PubMed]
Zuily S et al: "Severe and diffuse arterial lesions in a patient with pseudoxanthoma elasticum."
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6
Patient was compound heterozygous for 2 mutations in exons 17 (c.2153Ab0e;G, p.Asp718Gly) (D) and 24 (c.3421Cb0e;T, p.Arg1141X) (E) of the ABCC6 gene.
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ABCC6 p.Asp718Gly 22624841:6:82
status: NEW7 The Asp718Gly mutation has not been described before, and its functionality is supported by its location in the ATPase domain, bioinformatics prediction tools, and cosegregation of the 2 mutations with the disease (F).
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ABCC6 p.Asp718Gly 22624841:7:4
status: NEW