Article
Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.
American journal of medical genetics. Part A - 15 Jan 2004
Feigenbaum Annette, Moore Robert, Clarke Joe, Hewson Stacy, Chitayat David, Ray Peter N, Stockley Tracy L
Abstract excerpt
Canavan disease (CD) is an autosomal recessive progressive neurodegenerative disorder prevalent in the Ashkenazi Jewish (AJ) population. The carrier rate for the most common mutations that cause CD in the AJ population is often quoted as 1:37-1:40. This is not supported by our finding of only two diagnosed cases of CD in the last 20 years in the Toronto AJ population of 160,000 and an estimated birth rate of...
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