The Molecular Basis of Glycogen Storage Disease Type 1a
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference36 articles.
1. The Metabolic and Molecular Bases of Inherited Disease;Chen,2001
2. Molecular Genetics of Type 1 Glycogen Storage Diseases
3. The Molecular Basis of Type 1 Glycogen Storage Diseases
4. Mutations in the Glucose-6-Phosphatase Gene that Cause Glycogen Storage Disease Type 1a
5. Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.
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2. A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>T;Journal of Clinical Investigation;2023-12-01
3. Gene therapy and genome editing for type I glycogen storage diseases;Frontiers in Molecular Medicine;2023-03-31
4. Amnio acid substitution at position 298 of human glucose-6 phosphatase-α significantly impacts its stability in mammalian cells;Amino Acids;2023-03-21
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