Gene: aspartoacylase; ASPA


Gene Symbol: ASPA
OMIM: 608034
Chromosome location: 17p13.2

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Canavan disease || EX4DEL

Phenotype:    Canavan disease
Dna Change:    EX4DEL
Protein Change:   
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 4
Transcript:    NM_000049.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TurkeyNANA100%NASistermans EA et al., 2000Sistermans 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

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