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Carrier screening for Canavan disease in Australia
Author(s) -
Howell V. M.,
Proos A. L.,
LaRue D.,
Jensen C. H.,
Beach F.,
Burnett L.
Publication year - 2004
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000028837.63607.f0
Subject(s) - human genetics , leukodystrophy , metabolic disease , medicine , disease , genetics , biology , gene
Abstract Summary: 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.