Found: 6
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Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 762, doi. 10.1023/A:1005572906807
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- Publication type:
- Article
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.
- Published in:
- 2009
- By:
- Publication type:
- Report
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.
- Published in:
- Human Mutation, 2006, v. 27, n. 6, p. 600, doi. 10.1002/humu.9426
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- Publication type:
- Article
Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Mutational analysis of the AGL gene: Five novel mutations in GSD III patients <FN ID="fn1">Communicated by William S. Sly</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #648 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/648.pdf</FN>
- Published in:
- Human Mutation, 2003, v. 22, n. 4, p. 337, doi. 10.1002/humu.9177
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- Publication type:
- Article
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.
- Published in:
- Human Mutation, 2002, v. 20, n. 6, p. 480, doi. 10.1002/humu.9093
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- Publication type:
- Article