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Carrier screening for Canavan disease in Australia
V M Howell1, A L Proos, D LaRue
1Pacific Laboratory Medicine Services (PaLMS), Royal North Shore Hospital (RNSH), St. Leonards, NSW, 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.
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