Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

Introduction: Glycogen storage disease type VI (GSD VI) is a disorder of glycogen metabolism due to mutations in the <i>PYGL</i> gene. Patients with GSD VI usually present with hepatomegaly, recurrent hypoglycemia, and short stature. Results: We report on two non-related Turkish patients...

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Bibliographic Details
Main Authors: Sarah C. Grünert, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian, Stefanie Beck-Wödl, Tobias B. Haack, Mona Grimmel, Miriam Bertrand, Ute Spiekerkoetter
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:Diagnostics
Subjects:
glycogen metabolism
splice variant
glycogen phosphorylase
PYGL
transcriptome analysis
in silico analysis
Online Access:https://www.mdpi.com/2075-4418/11/3/500

Internet

https://www.mdpi.com/2075-4418/11/3/500

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