Mutations in the glucose-6-phosphatase-α (G6PC) gene that cause type Ia glycogen storage disease
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference104 articles.
1. Glycogen storage disease type Ia: Molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells
2. Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability
3. Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene
4. The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23
5. Hyperfiltration and renal disease in glycogen storage disease, type I
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