Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase

Volume: 297, Issue: 1, Pages: 100843 - 100843
Published: Jul 1, 2021
Abstract
Peters Plus Syndrome (PTRPLS OMIM #261540) is a severe congenital disorder of glycosylation where patients have multiple structural anomalies, including Peters anomaly of the eye (anterior segment dysgenesis), disproportionate short stature, brachydactyly, dysmorphic facial features, developmental delay, and variable additional abnormalities. PTRPLS patients and some Peters Plus-like (PTRPLS-like) patients (who only have a subset of PTRPLS...
Paper Details
Title
Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase
Published Date
Jul 1, 2021
Volume
297
Issue
1
Pages
100843 - 100843
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