Gene Symbol: GAA
OMIM: 606800 Chromosome location: 17q25.3
Related informations:  
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Phenotype: |    Glycogen storage disease II |
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Dna Change: |    exon 18 deletion |
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Protein Change: |    |
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Mutation Type: |    Deletion |
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Mutation Effect: |    Others |
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Location: |    exon 18 |
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Transcript: |    NM_000152.3 |
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Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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Italy | NA | Sicily | 5 patients/25 patients | NA | Dagnino F et al., 2000Dagnino F, Stroppiano M, Regis S, Bonuccelli G, Filocamo M, . Evidence for a founder effect in Sicilian patients with glycogen storage disease type II.. Hum. Hered.. 2000; 50(6):331-3 |
Italy | NA | Sicily | 5 patients/25 patients | NA | Dagnino F et al., 2000Dagnino F, Stroppiano M, Regis S, Bonuccelli G, Filocamo M, . Evidence for a founder effect in Sicilian patients with glycogen storage disease type II.. Hum. Hered.. 2000; 50(6):331-3 |
References
Dagnino F, Stroppiano M, Regis S, Bonuccelli G, Filocamo M, Evidence for a founder effect in Sicilian patients with glycogen storage disease type II.Hum. Hered.. 2000; 50(6):331-3