OMIM: 232300Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | GAA |
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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