Title : Novel mutation in an Egyptian patient with infantile Canavan disease.

Pub. Date : 2016 Jun

PMID : 26613958






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme that catalyzes the deacetylation of NAA. 1-naphthaleneacetic acid aspartoacylase Homo sapiens
2 Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme that catalyzes the deacetylation of NAA. 1-naphthaleneacetic acid aspartoacylase Homo sapiens