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See Latest ArticlesTen novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria
Human Mutation, 02/18/09
Menao S et al. - The authors present a simple, efficient method to express the enzyme and the authors analyze the possible functional effects of missense mutations. The finding that all identified missense mutations cause a >95% decrease in the enzyme activity, indicates that the disease appears only in very severe genotypes.
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