title: Carrier screening for Canavan disease in Australia.
abstract: This study reports, for the first time, the carrier frequency of Canavan disease in the Ashkenazi Jewish population in Australia, and the identification of a novel mutation in the ASPA gene.
authors.affiliation: Pacific Laboratory Medicine Services (PaLMS), Royal North Shore Hospital (RNSH), St. Leonards, NSW, Australia.
authors.forename: V M
authors.initials: VM
authors.lastname: Howell
authors.forename: A L
authors.initials: AL
authors.lastname: Proos
authors.forename: D
authors.initials: D
authors.lastname: LaRue
authors.forename: C H
authors.initials: CH
authors.lastname: Jensen
authors.forename: F
authors.initials: F
authors.lastname: Beach
authors.forename: L
authors.initials: L
authors.lastname: Burnett
mesh_terms: D001315:Australia; D017825:Canavan Disease / Q000175:diagnosis* / Q000235:genetics*; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D007585:Jews / Q000235:genetics; D017354:Point Mutation