Frequency of a DNA polymorphism at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in the Ashkenazi Jewish population
Open Access
- 1 January 1998
- journal article
- mutation in-brief
- Published by Wiley in Human Mutation
- Vol. 11 (S1) , S161-S162
- https://doi.org/10.1002/humu.1380110154
Abstract
No abstract availableKeywords
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- Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan diseaseNature Genetics, 1993
- Aspartoacylase deficiency and N‐acetylaspartic aciduria in patients with canavan diseaseAmerican Journal of Medical Genetics, 1988