A case of a mild Wolfram Syndrome with concomitant ATP7B mutation

A case of a mild Wolfram Syndrome with concomitant ATP7B mutation

Background: Wolfram Syndrome 1 (WS1) has been characterized on the basis of mutation in the WFS1 gene encoding a calcium storage wolframin endoplasmatic reticulum transmembrane glycoprotein. Patients and Methods: We observed a WS 10-years old female subject, with Type 1 diabetes-mellitus (DM), that...

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Bibliographic Details
Main Authors: R. Squitti, G. Cerchiaro, I. Giovannoni, P. Francalanci, M. Siotto, P. Maffei, C. Ricordi, M. Rongioletti
Format: Article
Language:English
Published: Verduci Editore 2019-08-01
Series:CellR4
Subjects:
diabetes
wolfram syndrome
atp7b
copper
Online Access:https://www.cellr4.org/wp-content/uploads/sites/2/2019/08/e2735-A-case-of-a-mild-Wolfram-Syndrome-with-concomitant-ATP7B-mutation-1.pdf

Internet

https://www.cellr4.org/wp-content/uploads/sites/2/2019/08/e2735-A-case-of-a-mild-Wolfram-Syndrome-with-concomitant-ATP7B-mutation-1.pdf

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