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
Format: Artikel
Sprache:eng
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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 . . .
ISSN:0028-4793
1533-4406
DOI:10.1056/NEJMx230005