OMIM: 271900Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | ASPA |
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| Dna Change: | EX4DEL |
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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: | exon 4 |
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| Transcript: | NM_000049.2 |
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References
Sistermans EA, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA, Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.Eur. J. Hum. Genet.. 2000; 8(7):557-60