An Alternate Explanation
An Alternate Explanation (N Engl J Med 2023;388:1318-1324). In the paragraph beginning “Progressive necrosis of the fingers” (page 1322), the third and fourth sentences should have read, “Whole-genome sequencing of the arterial tissue revealed a missense mutation in NT5E (c.1126A→G, p.Thr376Ala). NT...
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Veröffentlicht in: | The New England journal of medicine 2023-09, Vol.389 (12), p.1156-1156 |
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Format: | Artikel |
Sprache: | eng |
Online-Zugang: | Volltext |
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Zusammenfassung: | An Alternate Explanation (N Engl J Med 2023;388:1318-1324). In the paragraph beginning “Progressive necrosis of the fingers” (page 1322), the third and fourth sentences should have read, “Whole-genome sequencing of the arterial tissue revealed a missense mutation in
NT5E
(c.1126A→G, p.Thr376Ala).
NT5E
encodes CD73, an enzyme that has a central role in phosphate metabolism and tissue calcification. Other variants of this gene — but not this variant — have been identified in persons with a disorder of calcification known as arterial calcification due to a deficiency of CD73 (ACDC). In the setting of widespread vascular calcification and the absence of an alternative explanation, the patient was diagnosed with ACDC,” rather than . . . |
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ISSN: | 0028-4793 1533-4406 |
DOI: | 10.1056/NEJMx230005 |