Carrier screening for Canavan disease in Australia.
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.
Howell
V M
VM
Pacific Laboratory Medicine Services (PaLMS), Royal North Shore Hospital (RNSH), St. Leonards, NSW, Australia.
Proos
A L
AL
LaRue
D
D
Jensen
C H
CH
Beach
F
F
Burnett
L
L
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