OMIM: 229600Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | ALDOB |
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| Dna Change: | c.1_624del (g.2840_9288del) |
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| Protein Change: | |
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| Mutation Type: | Deletion |
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| Mutation Effect: | |
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| Location: | exons 2–6 |
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| Transcript: | NM_000035.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | NA | 2.46% | NA | Esposito G et al., 2010Esposito G, Imperato MR, Ieno L, Sorvillo R, Benigno V, Parenti G, Parini R, Vitagliano L, Zagari A, Salvatore F, . Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.. Hum. Mutat.. 2010; 31(12):1294-303 |
References
Esposito G, Imperato MR, Ieno L, Sorvillo R, Benigno V, Parenti G, Parini R, Vitagliano L, Zagari A, Salvatore F, Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.Hum. Mutat.. 2010; 31(12):1294-303