OMIM: 277900Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | ATP7B |
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| Dna Change: | 15-BP DEL, NT-441 |
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| Protein Change: | |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | |
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| Transcript: | NM_000053.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | Sardinia | NA | NA | Loudianos G et al., 1999Loudianos G, Dessi V, Lovicu M, Angius A, Figus A, Lilliu F, De Virgiliis S, Nurchi AM, Deplano A, Moi P, Pirastu M, Cao A, . Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.. Hum. Mutat.. 1999; 14(4):294-303 |
References
Loudianos G, Dessi V, Lovicu M, Angius A, Figus A, Lilliu F, De Virgiliis S, Nurchi AM, Deplano A, Moi P, Pirastu M, Cao A, Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.Hum. Mutat.. 1999; 14(4):294-303