Article
Mutation analysis in Turkish patients with hereditary fructose intolerance.
Journal of inherited metabolic disease - 1 Oct 2001
Dursun A, Kalkanoğlu H S, Coşkun T, Tokatli A, Bittner R, Koçak N, Yüce A, Ozalp I, Boehme H J
Abstract excerpt
Thirteen Turkish patients with hereditary fructose intolerance (HFI) were screened for the three common mutations, A149P, A174D and N334K, in the aldolase B gene that have been detected frequently in European population. We found that nine of the patients carry the A149P mutation in both alleles, which corresponds to a frequency of about 55%. Single-strand conformation analysis of all coding exons of the gene was...
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